A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546687



Internal ID16334096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83164132..83274841hg38UCSC Ensembl
Innerchr1:83629815..83740524hg19UCSC Ensembl
Innerchr1:83402403..83513112hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38110710
hg19110710
hg18110710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv345n54
Supporting Variantsnssv1173045
SamplesHGDP00917
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546687
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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