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Variant : CV157877 (GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3) Homo sapiens

Symbol: CV157877
Name: GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3
Condition: See cases [RCV000137206]
Clinical Significance: benign
Last Evaluated: 09/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC016065.1   AC019257.1   AC100810.1   AC246817.1   AF067845.2   AGPAT5   ANGPT2   ARHGEF10   CLN8   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB4A   DEFB4B   DLGAP2   DLGAP2-AS1   FAM66B   FAM66E   FAM85B   GS1-24F4.2   KBTBD11   KBTBD11-OT1   LINC00965   LOC101927815   LOC101928095   LOC105377777   LOC106783493   LOC107522030   LOC113788286   LOC113788289   LOC114827837   MCPH1   MCPH1-AS1   MIR3674   MIR4659A   MIR4659B   MIR548I3   MIR596   MIR7160   MIR8055   MYOM2   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L1   USP17L3   USP17L4   USP17L8   XKR5   ZNF705B   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_782690)_(8222398_?)dup
NC_000008.10:g.(?_732690)_(8079920_?)dup
NC_000008.9:g.(?_722690)_(8117330_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388782,690 - 8,222,398CLINVAR
GRCh378732,690 - 8,079,920CLINVAR
Build 368722,690 - 8,117,330CLINVAR
Cytogenetic Map88p23.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484765
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.