A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964903



Internal ID18253453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80650282..80652075hg38UCSC Ensembl
Innerchr5:79946101..79947894hg19UCSC Ensembl
Innerchr5:79981857..79983650hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381794
hg191794
hg181794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2367877, nssv2367880, nssv2367878, nssv2367882, nssv2367879, nssv2367884, nssv2367885, nssv2367881, nssv2367876, nssv2367883
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDHFR, MTRNR2L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964903
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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