A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584069



Internal ID16371478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192364665..192454988hg38UCSC Ensembl
Innerchr2:193229391..193319714hg19UCSC Ensembl
Innerchr2:192937636..193027959hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3890324
hg1990324
hg1890324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151346
Samples1780862381_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584069
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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