A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008480



Internal ID19097698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146858496..146896422hg38UCSC Ensembl
Innerchr2:147616064..147653990hg19UCSC Ensembl
Innerchr2:147332534..147370460hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3837927
hg1937927
hg1837927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582942, nssv3582943
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008480
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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