A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148503



Internal ID19195120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:35528581..35532182hg38UCSC Ensembl
Outerchr8:35386099..35389700hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000538
SamplesKWB1
Known GenesUNC5D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148503
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer