A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139679



Internal ID18914611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60882639..60887339hg38UCSC Ensembl
Outerchr17:58960000..58964700hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977264
SamplesKWS2
Known GenesBCAS3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139679
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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