A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147889



Internal ID18853243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36171340..36176840hg38UCSC Ensembl
Outerchr17:34498699..34504200hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385501
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996673
SamplesKWB1
Known GenesTBC1D3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147889
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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