A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953890



Internal ID16956077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37926856..37987539hg38UCSC Ensembl
Outerchr17:36286401..36347100hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3860684
hg1960700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998736
SamplesBILGI_BIOE
Known GenesTBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953890
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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