A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546630



Internal ID16334039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79040725..79092119hg38UCSC Ensembl
Innerchr1:79506410..79557804hg19UCSC Ensembl
Innerchr1:79278998..79330392hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3851395
hg1951395
hg1851395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv717745
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546630
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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