A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960858



Internal ID18249419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49488633..49492464hg38UCSC Ensembl
Innerchr19:49991890..49995721hg19UCSC Ensembl
Innerchr19:54683702..54687533hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383832
hg193832
hg183832
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2153989, nssv2153987, nssv2153986, nssv2153983, nssv2153991, nssv2153990, nssv2153984, nssv2153988, nssv2153985, nssv2153992
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL13A, RPL13AP5, SNORD32A, SNORD33, SNORD34, SNORD35A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960858
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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