A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2355131



Internal ID17815265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50665526..50685149hg38UCSC Ensembl
Innerchr5:49961360..49980983hg19UCSC Ensembl
Innerchr5:49997117..50016740hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3819624
hg1919624
hg1819624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968910
Supporting Variants
SamplesHGDP00927
Known GenesPARP8
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)nssv2355131
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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