A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546589



Internal ID16333998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76482359..76554301hg38UCSC Ensembl
Innerchr1:76948044..77019986hg19UCSC Ensembl
Innerchr1:76720632..76792574hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3871943
hg1971943
hg1871943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv327n54
Supporting Variantsnssv1173027, nssv1173029, nssv1173028
SamplesHGDP00315, HGDP00286, HGDP00326
Known GenesST6GALNAC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546589
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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