A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134915



Internal ID19251071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:33207541..33207635hg38UCSC Ensembl
Outerchr8:33065059..33065153hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988412
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134915
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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