A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546588



Internal ID16333997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76482359..76553912hg38UCSC Ensembl
Innerchr1:76948044..77019597hg19UCSC Ensembl
Innerchr1:76720632..76792185hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3871554
hg1971554
hg1871554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv327n54
Supporting Variantsnssv1173026
SamplesHGDP00290
Known GenesST6GALNAC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546588
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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