A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120336



Internal ID19256625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:32300912..32309784hg38UCSC Ensembl
Outerchr17:30627931..30636803hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388873
hg198873
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961911
SamplesKWS1
Known GenesRHBDL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120336
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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