A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601490



Internal ID16388899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31111487..31116658hg38UCSC Ensembl
Innerchr6:31079264..31084435hg19UCSC Ensembl
Innerchr6:31187243..31192414hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg385172
hg195172
hg185172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1052287
Samples
Known GenesC6orf15, CDSN, PSORS1C1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601490
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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