A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2364213



Internal ID17808745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74773863..74776797hg38UCSC Ensembl
Innerchr5:74069688..74072622hg19UCSC Ensembl
Innerchr5:74105444..74108378hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382935
hg192935
hg182935
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968948
Supporting Variants
SamplesHGDP00778
Known GenesNSA2
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)nssv2364213
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