A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968257



Internal ID18603485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141224497..141225901hg38UCSC Ensembl
Innerchr5:140604069..140605473hg19UCSC Ensembl
Innerchr5:140584253..140585657hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381405
hg191405
hg181405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2381826, nssv2381825, nssv2381831, nssv2381833, nssv2381834, nssv2381830, nssv2381832, nssv2381827, nssv2381829, nssv2381828
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHB14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968257
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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