A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602049



Internal ID16042772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31996619..32013369hg38UCSC Ensembl
Innerchr6:31964396..31981146hg19UCSC Ensembl
Innerchr6:32072370..32089124hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3816751
hg1916751
hg1816755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10474n54
Supporting Variantsnssv1053785
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, TNXA, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602049
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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