A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978789



Internal ID18267306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21397151..21406484hg38UCSC Ensembl
Innerchr19:21579953..21589286hg19UCSC Ensembl
Innerchr19:21371793..21381126hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg389334
hg199334
hg189334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2139433, nssv2139441, nssv2139438, nssv2139435, nssv2139439, nssv2139437, nssv2139432, nssv2139434, nssv2139436, nssv2139440
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF493
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978789
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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