A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968258



Internal ID18256800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141340239..141341451hg38UCSC Ensembl
Innerchr5:140719806..140721018hg19UCSC Ensembl
Innerchr5:140699990..140701202hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381213
hg191213
hg181213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2382588, nssv2382595, nssv2382592, nssv2382594, nssv2382586, nssv2382593, nssv2382591, nssv2382587, nssv2382590, nssv2382589
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHGA1, PCDHGA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968258
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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