A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999083



Internal ID19187988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:49791686..49797187hg38UCSC Ensembl
Outerchr6:49759399..49764900hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151901
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999083
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