A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964959



Internal ID18253508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141235450..141237352hg38UCSC Ensembl
Innerchr5:140615022..140616924hg19UCSC Ensembl
Innerchr5:140595206..140597108hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381903
hg191903
hg181903
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2381924, nssv2381925, nssv2381922, nssv2381928, nssv2381929, nssv2381931, nssv2381930, nssv2381926, nssv2381927, nssv2381923
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHB18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964959
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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