A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067312



Internal ID19156531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40842952..40875029hg38UCSC Ensembl
Innerchr19:41348857..41380934hg19UCSC Ensembl
Innerchr19:46040697..46072774hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3832078
hg1932078
hg1832078
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3536n100
Supporting Variantsnssv3724545, nssv3568269, nssv3568267, nssv3568266, nssv3568270, nssv3568268, nssv3724547, nssv3724546, nssv3724548
Samples
Known GenesCYP2A6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067312
Frequency
Sample Size11257
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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