A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601995



Internal ID16042718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984179..32029165hg38UCSC Ensembl
Innerchr6:31951956..31996942hg19UCSC Ensembl
Innerchr6:32059935..32104920hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3844987
hg1944987
hg1844986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10466n54
Supporting Variantsnssv1053619, nssv1053620
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)nsv601995
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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