A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581000



Internal ID16368409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12400739..12700449hg38UCSC Ensembl
Innerchr2:12540865..12840575hg19UCSC Ensembl
Innerchr2:12458316..12758026hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38299711
hg19299711
hg18299711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv903790
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581000
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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