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Variant : CV155819 (GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3) Homo sapiens

Symbol: CV155819
Name: GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3
Condition: See cases [RCV000135394]
Clinical Significance: uncertain significance
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ESF1   FLRT3   ISM1   ISM1-AS1   LINC01722   LINC01723   MACROD2   MACROD2-IT1   NDUFAF5   SEL1L2   SPTLC3   TASP1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_12130588)_(14687477_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382012,130,588 - 14,687,477CLINVAR
GRCh372012,111,236 - 14,668,123CLINVAR
Build 362012,059,236 - 14,616,123CLINVAR
Cytogenetic Map2020p12.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9482967
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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