A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152051



Internal ID18849542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28816482..28820483hg38UCSC Ensembl
Outerchr8:28673999..28678000hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg384002
hg194002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999233
SamplesKWB1
Known GenesINTS9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152051
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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