A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546448



Internal ID15987171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68072585..68177408hg38UCSC Ensembl
Innerchr1:68538268..68643091hg19UCSC Ensembl
Innerchr1:68310856..68415679hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38104824
hg19104824
hg18104824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716144
Samples
Known GenesGNG12-AS1, WLS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546448
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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