A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546314



Internal ID16333723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58449952..58470712hg38UCSC Ensembl
Innerchr1:58915624..58936384hg19UCSC Ensembl
Innerchr1:58688212..58708972hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3820761
hg1920761
hg1820761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv715265
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546314
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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