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Variant : CV162601 (GRCh38/hg38 19q13.42(chr19:53692245-53808292)x3) Homo sapiens

Symbol: CV162601
Name: GRCh38/hg38 19q13.42(chr19:53692245-53808292)x3
Condition: See cases [RCV000141357]
Clinical Significance: uncertain significance
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: MIR1283-2   MIR371A   MIR371B   MIR372   MIR373   MIR516A1   MIR516A2   MIR516B1   MIR516B2   MIR517A   MIR517B   MIR517C   MIR518A1   MIR518A2   MIR518B   MIR518C   MIR518D   MIR518E   MIR518F   MIR519A1   MIR519A2   MIR519B   MIR519D   MIR520B   MIR520C   MIR520D   MIR520G   MIR520H   MIR521-1   MIR521-2   MIR522   MIR523   MIR524   MIR525   MIR526A1   MIR526A2   MIR526B   MIR527   NLRP12  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_53692245)_(53808292_?)dup
NC_000019.9:g.(?_54195499)_(54311546_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381953,692,245 - 53,808,292CLINVAR
GRCh371954,195,499 - 54,311,546CLINVAR
Build 361958,887,311 - 59,003,358CLINVAR
Cytogenetic Map1919q13.42CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488882
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.