A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582578



Internal ID16369987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105620807..105642841hg38UCSC Ensembl
Innerchr2:106237264..106259298hg19UCSC Ensembl
Innerchr2:105603696..105625730hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3822035
hg1922035
hg1822035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914759
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582578
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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