A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999393



Internal ID19190376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161276588..161282689hg38UCSC Ensembl
Outerchr2:162133099..162139200hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386102
hg196102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146189
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999393
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