A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117175



Internal ID19250093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:510356..510456hg38UCSC Ensembl
Outerchr17:413596..413696hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979356
SamplesKWS2
Known GenesVPS53
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117175
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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