A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2358093



Internal ID17772714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60649050..60666820hg38UCSC Ensembl
Innerchr5:59944877..59962647hg19UCSC Ensembl
Innerchr5:59980634..59998404hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3817771
hg1917771
hg1817771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968916
Supporting Variants
SamplesHGDP00542
Known GenesDEPDC1B
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)nssv2358093
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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