A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582799



Internal ID16370208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120687644..120718260hg38UCSC Ensembl
Innerchr2:121445220..121475836hg19UCSC Ensembl
Innerchr2:121161690..121192306hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3830617
hg1930617
hg1830617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150497
SamplesHGDP01067
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582799
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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