A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601998



Internal ID16042721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984645..32038826hg38UCSC Ensembl
Innerchr6:31952422..32006603hg19UCSC Ensembl
Innerchr6:32060401..32114582hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3854182
hg1954182
hg1854182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10468n54
Supporting Variantsnssv1053624
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)nsv601998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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