A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2382094



Internal ID17530933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141423094..141423853hg38UCSC Ensembl
Innerchr5:140802661..140803420hg19UCSC Ensembl
Innerchr5:140782845..140783604hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38760
hg19760
hg18760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980740
Supporting Variants
SamplesHGDP01307
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7
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)nssv2382094
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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