A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057452



Internal ID19146671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40832930..40875029hg38UCSC Ensembl
Innerchr19:41338835..41380934hg19UCSC Ensembl
Innerchr19:46030675..46072774hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3842100
hg1942100
hg1842100
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3533n100
Supporting Variantsnssv3568236, nssv3568237, nssv3568239, nssv3568238, nssv3724541, nssv3568235
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)nsv1057452
Frequency
Sample Size11257
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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