A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582076



Internal ID16369485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57175505..57238404hg38UCSC Ensembl
Innerchr2:57402640..57465539hg19UCSC Ensembl
Innerchr2:57256144..57319043hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3862900
hg1962900
hg1862900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6900n54
Supporting Variantsnssv911222, nssv911221, nssv911223, nssv911224
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582076
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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