A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078415



Internal ID19321365
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 StatusM
Merged Variants
Supporting Variantsnssv3771589
SamplesKWP1
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078415
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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