A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153123



Internal ID18854893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37924354..38250190hg38UCSC Ensembl
Outerchr17:36283899..36406200hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38325837
hg19122302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998157
SamplesKWB1
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153123
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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