A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602040



Internal ID16042763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31996009..32043539hg38UCSC Ensembl
Innerchr6:31963786..32011316hg19UCSC Ensembl
Innerchr6:32071765..32119295hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3847531
hg1947531
hg1847531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10468n54
Supporting Variantsnssv1053731
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)nsv602040
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer