A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517065



Internal ID15097672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2609249..2659585hg38UCSC Ensembl
Innerchr11:2630479..2680815hg19UCSC Ensembl
Innerchr11:2587055..2637391hg18UCSC Ensembl
Innerchr11:2587055..2637391hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3850337
hg1950337
hg1850337
hg1750337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665007, nssv682482, nssv665381, nssv665553, nssv653718, nssv685634, nssv656913, nssv663369, nssv691448, nssv663662
Samples
Known GenesKCNQ1, KCNQ1OT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517065
Frequency
Sample Size2026
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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