A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978814



Internal ID18267331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39266336..39270084hg38UCSC Ensembl
Innerchr19:39756976..39760724hg19UCSC Ensembl
Innerchr19:44448816..44452564hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383749
hg193749
hg183749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2147313, nssv2147310, nssv2147317, nssv2147314, nssv2147318, nssv2147311, nssv2147309, nssv2147312, nssv2147315, nssv2147316
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIFNL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978814
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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