A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968218



Internal ID18603446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:90512004..90513221hg38UCSC Ensembl
Innerchr5:89807821..89809038hg19UCSC Ensembl
Innerchr5:89843577..89844794hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381218
hg191218
hg181218
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2366955, nssv2366963, nssv2366960, nssv2366956, nssv2366954, nssv2366959, nssv2366961, nssv2366962, nssv2366957, nssv2366958
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOLR3G
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968218
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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