A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978762



Internal ID18267279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6590921..6595768hg38UCSC Ensembl
Innerchr19:6590932..6595779hg19UCSC Ensembl
Innerchr19:6541932..6546779hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384848
hg194848
hg184848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2128987, nssv2128985, nssv2128992, nssv2128990, nssv2128993, nssv2128989, nssv2128994, nssv2128988, nssv2128991, nssv2128986
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCD70
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978762
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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