A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602045



Internal ID16042768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31996469..32046679hg38UCSC Ensembl
Innerchr6:31964246..32014456hg19UCSC Ensembl
Innerchr6:32072225..32122434hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3850211
hg1950211
hg1850210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1053781
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)nsv602045
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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