A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978832



Internal ID18267349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49033751..49059401hg38UCSC Ensembl
Innerchr19:49537008..49562658hg19UCSC Ensembl
Innerchr19:54228820..54254470hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3825651
hg1925651
hg1825651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2154518, nssv2154520, nssv2154525, nssv2154522, nssv2154524, nssv2154527, nssv2154523, nssv2154519, nssv2154526, nssv2154521
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCGB1, CGB5, CGB7, CGB8, SNAR-G1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978832
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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