A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001502



Internal ID18744033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:160111353..160222939hg38UCSC Ensembl
Innerchr2:160967864..161079450hg19UCSC Ensembl
Innerchr2:160676110..160787696hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38111587
hg19111587
hg18111587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582989
Samples
Known GenesITGB6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001502
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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