A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118683



Internal ID19260333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:15508963..15585263hg38UCSC Ensembl
Outerchr22:16392700..16469000hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3876301
hg1976301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959575
SamplesKWS1
Known GenesOR11H1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118683
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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