A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583365



Internal ID16370774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:153342976..153416028hg38UCSC Ensembl
Innerchr2:154199490..154272542hg19UCSC Ensembl
Innerchr2:153907736..153980788hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3873053
hg1973053
hg1873053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv921606
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583365
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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