A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968212



Internal ID18256754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77045720..77046744hg38UCSC Ensembl
Innerchr5:76341545..76342569hg19UCSC Ensembl
Innerchr5:76377301..76378325hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2365682, nssv2365686, nssv2365689, nssv2365684, nssv2365685, nssv2365688, nssv2365687, nssv2365690, nssv2365683, nssv2365691
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAGGF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968212
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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