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Variant : CV159447 (GRCh38/hg38 Xp22.12(chrX:19970925-20240102)x2) Homo sapiens

Symbol: CV159447
Name: GRCh38/hg38 Xp22.12(chrX:19970925-20240102)x2
Condition: See cases [RCV000138669]
Clinical Significance: uncertain significance
Last Evaluated: 05/07/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BCLAF3   EIF1AX   EIF1AX-AS1   MAP7D2   MIR23C   RPS6KA3   SCARNA9L  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_19970925)_(20240102_?)dup
NC_000023.10:g.(?_19989043)_(20258220_?)dup
NC_000023.9:g.(?_19898964)_(20168141_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X19,970,925 - 20,240,102CLINVAR
GRCh37X19,989,043 - 20,258,220CLINVAR
Build 36X19,898,964 - 20,168,141CLINVAR
Cytogenetic MapXXp22.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486206
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.