A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117488



Internal ID19279805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:29304651..29311860hg38UCSC Ensembl
Outerchr8:29162168..29169377hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg387210
hg197210
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980389, nssv3988411
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117488
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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