A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133688



Internal ID18900998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31032784..31033884hg38UCSC Ensembl
Outerchr8:30890300..30891400hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969260
SamplesKWS2
Known GenesPURG, WRN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133688
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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