A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582345



Internal ID16369754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81960228..82072821hg38UCSC Ensembl
Innerchr2:82187352..82299945hg19UCSC Ensembl
Innerchr2:82040863..82153456hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38112594
hg19112594
hg18112594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6943n54
Supporting Variantsnssv913802
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582345
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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