A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964904



Internal ID18600140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81242271..81243402hg38UCSC Ensembl
Innerchr5:80538090..80539221hg19UCSC Ensembl
Innerchr5:80573846..80574977hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381132
hg191132
hg181132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2367980, nssv2367979, nssv2367974, nssv2367978, nssv2367973, nssv2367981, nssv2367976, nssv2367982, nssv2367977, nssv2367975
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCKMT2, CKMT2-AS1, RNU5D-1, RNU5E-1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964904
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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