A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583248



Internal ID16370657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:145378051..145466590hg38UCSC Ensembl
Innerchr2:146135619..146224158hg19UCSC Ensembl
Innerchr2:145852089..145940628hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3888540
hg1988540
hg1888540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7096n54
Supporting Variantsnssv920280
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583248
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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