A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1871689



Internal ID17499262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2771026..2772376hg38UCSC Ensembl
Innerchr11:2792256..2793606hg19UCSC Ensembl
Innerchr11:2748832..2750182hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381351
hg191351
hg181351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975139
Supporting Variants
SamplesHGDP01029
Known GenesKCNQ1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1871689
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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