A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602044



Internal ID16042767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31996451..32042495hg38UCSC Ensembl
Innerchr6:31964228..32010272hg19UCSC Ensembl
Innerchr6:32072207..32118251hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3846045
hg1946045
hg1846045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10468n54
Supporting Variantsnssv1053780
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)nsv602044
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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