A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518820



Internal ID15099427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68188593..68202000hg38UCSC Ensembl
Innerchr1:68654276..68667683hg19UCSC Ensembl
Innerchr1:68426864..68440271hg18UCSC Ensembl
Innerchr1:68366297..68379704hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3813408
hg1913408
hg1813408
hg1713408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696273
Samples
Known GenesGNG12-AS1, WLS
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518820
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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