A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001276



Internal ID19090493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:146844216..146920208hg38UCSC Ensembl
Innerchr2:147601784..147677776hg19UCSC Ensembl
Innerchr2:147318254..147394246hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3875993
hg1975993
hg1875993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4091n100
Supporting Variantsnssv3729259
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)nsv1001276
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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