A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546591



Internal ID15987314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77308728..77803522hg38UCSC Ensembl
Innerchr1:77774413..78269207hg19UCSC Ensembl
Innerchr1:77547001..78041795hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38494795
hg19494795
hg18494795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173031
SamplesHGDP00468
Known GenesAK5, FAM73A, USP33, ZZZ3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546591
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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