A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2380733



Internal ID17819387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141096667..141097493hg38UCSC Ensembl
Innerchr5:140476251..140477077hg19UCSC Ensembl
Innerchr5:140456435..140457261hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38827
hg19827
hg18827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980735
Supporting Variants
SamplesHGDP00927
Known GenesPCDHB2
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)nssv2380733
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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