A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960805



Internal ID18249366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:16407812..16415549hg38UCSC Ensembl
Innerchr19:16518623..16526360hg19UCSC Ensembl
Innerchr19:16379623..16387360hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg387738
hg197738
hg187738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2136842, nssv2136834, nssv2136835, nssv2136840, nssv2136833, nssv2136837, nssv2136836, nssv2136839, nssv2136841, nssv2136838
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesEPS15L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960805
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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