A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583288



Internal ID16370697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146853682..146920814hg38UCSC Ensembl
Innerchr2:147611250..147678382hg19UCSC Ensembl
Innerchr2:147327720..147394852hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3867133
hg1967133
hg1867133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv921242
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583288
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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