A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968284



Internal ID18256826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178040633..178058066hg38UCSC Ensembl
Innerchr5:177467634..177485067hg19UCSC Ensembl
Innerchr5:177400240..177417673hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3817434
hg1917434
hg1817434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2390620, nssv2390624, nssv2390618, nssv2390627, nssv2390625, nssv2390626, nssv2390622, nssv2390619, nssv2390621, nssv2390623
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM153C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968284
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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