A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1053786



Internal ID15560286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31996807..32017441hg38UCSC Ensembl
Innerchr6:31964584..31985218hg19UCSC Ensembl
Innerchr6:32072562..32093196hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3820635
hg1920635
hg1820635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv602050
Supporting Variants
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)nssv1053786
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