A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002362



Internal ID19192540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68964172..68966673hg38UCSC Ensembl
Outerchr5:68259999..68262500hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg382502
hg192502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153709
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002362
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