A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546572



Internal ID16333981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:73276336..73444372hg38UCSC Ensembl
Innerchr1:73742019..73910055hg19UCSC Ensembl
Innerchr1:73514607..73682643hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38168037
hg19168037
hg18168037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173020
SamplesHGDP00760
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546572
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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