A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3771589



Internal ID18962308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37976243..38250190hg38UCSC Ensembl
chr17:36335799..36406200hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38273948
hg1970402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078415
Supporting Variants
SamplesKWP1
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3771589
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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