A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118598



Internal ID19264768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60006139..60021139hg38UCSC Ensembl
Outerchr17:58083500..58098500hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959111
SamplesKWS1
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118598
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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