A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546585



Internal ID16333994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76360594..76576720hg38UCSC Ensembl
Innerchr1:76826279..77042405hg19UCSC Ensembl
Innerchr1:76598867..76814993hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38216127
hg19216127
hg18216127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173023
Samples1780862125_A
Known GenesST6GALNAC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546585
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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