A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132670



Internal ID19263153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12716791..12719791hg38UCSC Ensembl
Outerchr8:12574300..12577300hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987457
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132670
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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