A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546584



Internal ID16333993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76227682..76255479hg38UCSC Ensembl
Innerchr1:76693367..76721164hg19UCSC Ensembl
Innerchr1:76465955..76493752hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3827798
hg1927798
hg1827798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv717550
Samples
Known GenesST6GALNAC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546584
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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