A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148001



Internal ID19195554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:34528550..34528666hg38UCSC Ensembl
Outerchr8:34386068..34386184hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001509
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148001
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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