A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980740



Internal ID18269254
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 StatusM
Merged Variants
Supporting Variantsnssv2382101, nssv2382102, nssv2382094, nssv2382099, nssv2382098, nssv2382100, nssv2382103, nssv2382095, nssv2382096, nssv2382097
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
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
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980740
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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