A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960288



Internal ID18248855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76829017..76838451hg38UCSC Ensembl
Innerchr18:74540973..74550407hg19UCSC Ensembl
Innerchr18:72669961..72679395hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg389435
hg199435
hg189435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2127147, nssv2127150, nssv2127151, nssv2127148, nssv2127149, nssv2127145, nssv2127144, nssv2127146, nssv2127142, nssv2127143
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF236
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960288
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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