A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582078



Internal ID16369487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57175505..57256534hg38UCSC Ensembl
Innerchr2:57402640..57483669hg19UCSC Ensembl
Innerchr2:57256144..57337173hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3881030
hg1981030
hg1881030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv911232
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582078
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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