A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582292



Internal ID16369701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78596875..78630744hg38UCSC Ensembl
Innerchr2:78824001..78857870hg19UCSC Ensembl
Innerchr2:78677509..78711378hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3833870
hg1933870
hg1833870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv913480
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582292
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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