A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653718



Internal ID15043684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2609249..2657423hg38UCSC Ensembl
Innerchr11:2630479..2678653hg19UCSC Ensembl
Innerchr11:2587055..2635229hg18UCSC Ensembl
Innerchr11:2587055..2635229hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3848175
hg1948175
hg1848175
hg1748175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517065
Supporting Variants
Samples
Known GenesKCNQ1, KCNQ1OT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653718
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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