A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149017



Internal ID18852086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15735385..15739986hg38UCSC Ensembl
Outerchr17:15638699..15643300hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997803
SamplesKWB1
Known GenesTBC1D26
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149017
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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