A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1968435



Internal ID17829473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:67266863..67270590hg38UCSC Ensembl
Innerchr13:67840995..67844722hg19UCSC Ensembl
Innerchr13:66738996..66742723hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg383728
hg193728
hg183728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977255
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1968435
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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