A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964960



Internal ID18600195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141240921..141242299hg38UCSC Ensembl
Innerchr5:140620489..140621867hg19UCSC Ensembl
Innerchr5:140600673..140602051hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381379
hg191379
hg181379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2381504, nssv2381506, nssv2381512, nssv2381511, nssv2381507, nssv2381508, nssv2381510, nssv2381509, nssv2381505, nssv2381503
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHB19P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964960
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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