A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601997



Internal ID16042720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31984179..32043539hg38UCSC Ensembl
Innerchr6:31951956..32011316hg19UCSC Ensembl
Innerchr6:32059935..32119295hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3859361
hg1959361
hg1859361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10468n54
Supporting Variantsnssv1053623
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)nsv601997
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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