A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2378026



Internal ID17457720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141136360..141137761hg38UCSC Ensembl
Innerchr5:140515942..140517343hg19UCSC Ensembl
Innerchr5:140496126..140497527hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381402
hg191402
hg181402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968993
Supporting Variants
SamplesHGDP00778
Known GenesPCDHB5
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)nssv2378026
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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