A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976516



Internal ID18265036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118382304..118385862hg38UCSC Ensembl
Innerchr11:118253019..118256577hg19UCSC Ensembl
Innerchr11:117758229..117761787hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383559
hg193559
hg183559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2757837
SamplesHGDP00998
Known GenesLOC100131626, UBE4A
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976516
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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