A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602042



Internal ID16042765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31996100..32014996hg38UCSC Ensembl
Innerchr6:31963877..31982773hg19UCSC Ensembl
Innerchr6:32071839..32090751hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3818897
hg1918897
hg1818913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10474n54
Supporting Variantsnssv1053778
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602042
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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