A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681193



Internal ID15071159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42817913..42964508hg38UCSC Ensembl
Innerchr19:43322065..43468660hg19UCSC Ensembl
Innerchr19:48013905..48160500hg18UCSC Ensembl
Innerchr19:48013905..48160500hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38146596
hg19146596
hg18146596
hg17146596
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516973
Supporting Variants
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681193
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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