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Variant : CV160941 (GRCh38/hg38 22q13.32(chr22:48500344-49037170)x3) Homo sapiens

Symbol: CV160941
Name: GRCh38/hg38 22q13.32(chr22:48500344-49037170)x3
Condition: See cases [RCV000139925]
Clinical Significance: uncertain significance
Last Evaluated: 11/14/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LINC01310   LOC112695107   LOC112695108   MIR4535   TAFA5   Z84468.1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_48500344)_(49037170_?)dup
NC_000022.10:g.(?_48896156)_(49432982_?)dup
NC_000022.9:g.(?_47274820)_(47818986_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382248,500,344 - 49,037,170CLINVAR
GRCh372248,896,156 - 49,432,982CLINVAR
Build 362247,274,820 - 47,818,986CLINVAR
Cytogenetic Map2222q13.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487455
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.