A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583668



Internal ID16024391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174710921..174762320hg38UCSC Ensembl
Innerchr2:175575649..175627048hg19UCSC Ensembl
Innerchr2:175283895..175335294hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3851400
hg1951400
hg1851400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150742
SamplesHGDP00905
Known GenesCHRNA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583668
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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