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Variant : CV73918 (GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3) Homo sapiens

Symbol: CV73918
Name: GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3
Condition: See cases [RCV000053155]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   BUB1   FBLN7   MERTK   MIR4435-2   MIR4435-2HG   MIR4771-2   SNORD132   SOCAR   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110634620)_(112345017_?)dup
NC_000002.11:g.(?_111392197)_(113102594_?)dup
NC_000002.10:g.(?_111108666)_(112819065_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,634,620 - 112,345,017CLINVAR
GRCh372111,392,197 - 113,102,594CLINVAR
Build 362111,108,666 - 112,819,065CLINVAR
Cytogenetic Map22q13-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620096
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-23
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.