A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1458n106



Internal ID20160815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36166120..36177240hg38UCSC Ensembl
chr17:34493500..34504600hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3811121
hg1911101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1118593, nsv1115520
SamplesKWS2, KWS1
Known GenesTBC1D3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1458n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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