A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075934



Internal ID18977394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36171540..36174641hg38UCSC Ensembl
chr17:34498899..34502000hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765528
SamplesKWP1
Known GenesTBC1D3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075934
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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