A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2381997



Internal ID17530719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141397884..141398741hg38UCSC Ensembl
Innerchr5:140777451..140778308hg19UCSC Ensembl
Innerchr5:140757635..140758492hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38858
hg19858
hg18858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968259
Supporting Variants
SamplesHGDP01307
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5
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)nssv2381997
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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