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Variant : CV72160 (GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1) Homo sapiens

Symbol: CV72160
Name: GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1
Condition: See cases [RCV000051293]
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   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110638242)_(112244051_?)del
NC_000002.11:g.(?_111395819)_(113001628_?)del
NC_000002.10:g.(?_111112291)_(112718099_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,638,242 - 112,244,051CLINVAR
GRCh372111,395,819 - 113,001,628CLINVAR
Build 362111,112,291 - 112,718,099CLINVAR
Cytogenetic Map22q13-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618318
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-07
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.