A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690240



Internal ID15080206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6750193..6774058hg38UCSC Ensembl
Innerchr19:6750204..6774069hg19UCSC Ensembl
Innerchr19:6701204..6725069hg18UCSC Ensembl
Innerchr19:6701204..6725069hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3823866
hg1923866
hg1823866
hg1723866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519561
Supporting Variants
Samples
Known GenesSH2D3A, TRIP10, VAV1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690240
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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