A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961911



Internal ID19222386
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 StatusS
Merged Variantsnsv1120336
Supporting Variants
SamplesKWS1
Known GenesRHBDL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961911
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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