A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10474n54



Internal ID20143898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31996009..32014996hg38UCSC Ensembl
chr6:31963786..31982773hg19UCSC Ensembl
chr6:32071765..32090751hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3818988
hg1918988
hg1818987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv602049, nsv602046, nsv602039, nsv602042
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)dgv10474n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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