A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601971



Internal ID16042694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31971488..32046679hg38UCSC Ensembl
Innerchr6:31939265..32014456hg19UCSC Ensembl
Innerchr6:32047244..32122434hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3875192
hg1975192
hg1875191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1053565
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, DXO, STK19, TNXA, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601971
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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