A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688524



Internal ID15078490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6755144..6767732hg38UCSC Ensembl
Innerchr19:6755155..6767743hg19UCSC Ensembl
Innerchr19:6706155..6718743hg18UCSC Ensembl
Innerchr19:6706155..6718743hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812589
hg1912589
hg1812589
hg1712589
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519561
Supporting Variants
Samples
Known GenesSH2D3A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688524
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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