A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602906



Internal ID16390315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34760476..34918659hg38UCSC Ensembl
Innerchr6:34728253..34886436hg19UCSC Ensembl
Innerchr6:34836231..34994414hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38158184
hg19158184
hg18158184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154297
Samples1780854206_A
Known GenesANKS1A, SNRPC, TAF11, UHRF1BP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602906
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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