A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960841



Internal ID18249402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41683363..41684362hg38UCSC Ensembl
Innerchr19:42187294..42188294hg19UCSC Ensembl
Innerchr19:46879134..46880134hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381000
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2149476, nssv2149480, nssv2149474, nssv2149479, nssv2149472, nssv2149478, nssv2149475, nssv2149473, nssv2149471, nssv2149477
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEACAM7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960841
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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