A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978640



Internal ID18613843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:70429584..70431444hg38UCSC Ensembl
Innerchr18:68096820..68098680hg19UCSC Ensembl
Innerchr18:66247800..66249660hg18UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg381861
hg191861
hg181861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2126676, nssv2126674, nssv2126671, nssv2126679, nssv2126670, nssv2126675, nssv2126672, nssv2126673, nssv2126678, nssv2126677
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978640
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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