A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117331



Internal ID19270278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:23063711..23087396hg38UCSC Ensembl
Outerchr3:23105202..23128887hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3823686
hg1923686
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962524, nssv3983975
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117331
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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