A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999233



Internal ID18841125
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 StatusS
Merged Variantsnsv1152051
Supporting Variants
SamplesKWB1
Known GenesINTS9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999233
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