A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143212



Internal ID19268609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:116004278..116034794hg38UCSC Ensembl
Outerchr8:117016503..117047019hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3830517
hg1930517
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980395
SamplesKWS2
Known GenesLINC00536
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143212
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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