A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602989



Internal ID16043712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:41953503..42054154hg38UCSC Ensembl
Innerchr6:41921241..42021892hg19UCSC Ensembl
Innerchr6:42029219..42129870hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38100652
hg19100652
hg18100652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1058418
Samples
Known GenesCCND3, TAF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602989
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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