A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139668



Internal ID19265605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19503387..19507187hg38UCSC Ensembl
Outerchr17:19406700..19410500hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977254
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139668
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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