A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2365202



Internal ID17737779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74877943..74885316hg38UCSC Ensembl
Innerchr5:74173768..74181141hg19UCSC Ensembl
Innerchr5:74209524..74216897hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg387374
hg197374
hg187374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968210
Supporting Variants
SamplesHGDP00456
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)nssv2365202
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