A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694470



Internal ID15431122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41478220..41513739hg38UCSC Ensembl
Innerchr19:41984128..42020112hg19UCSC Ensembl
Innerchr19:46675968..46711952hg18UCSC Ensembl
Innerchr19:46675968..46711952hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3835520
hg1935985
hg1835985
hg1735985
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521657
Supporting Variants
Samples
Known GenesLOC100505495
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694470
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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