A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960844



Internal ID18249405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41760762..41765955hg38UCSC Ensembl
Innerchr19:42264670..42269863hg19UCSC Ensembl
Innerchr19:46956510..46961703hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385194
hg195194
hg185194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2149299, nssv2149294, nssv2149293, nssv2149290, nssv2149298, nssv2149295, nssv2149297, nssv2149292, nssv2149291, nssv2149296
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEACAM6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960844
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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