A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980715



Internal ID18269229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115209314..115212445hg38UCSC Ensembl
Innerchr5:114545011..114548142hg19UCSC Ensembl
Innerchr5:114572910..114576041hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg383132
hg193132
hg183132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2373249, nssv2373254, nssv2373256, nssv2373251, nssv2373257, nssv2373252, nssv2373250, nssv2373255, nssv2373253, nssv2373258
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPGGT1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980715
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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