A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978820



Internal ID18267337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41708605..41710460hg38UCSC Ensembl
Innerchr19:42212524..42214379hg19UCSC Ensembl
Innerchr19:46904364..46906219hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381856
hg191856
hg181856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2149594, nssv2149585, nssv2149589, nssv2149593, nssv2149588, nssv2149592, nssv2149587, nssv2149591, nssv2149590, nssv2149586
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEACAM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978820
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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