A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2359448



Internal ID17775352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69054408..69075590hg38UCSC Ensembl
Innerchr5:68350235..68371417hg19UCSC Ensembl
Innerchr5:68385991..68407173hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3821183
hg1921183
hg1821183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968920
Supporting Variants
SamplesHGDP00542
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)nssv2359448
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