A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960275



Internal ID18248842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46215961..46216461hg38UCSC Ensembl
Innerchr18:43795927..43796427hg19UCSC Ensembl
Innerchr18:42049925..42050425hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2122711, nssv2122717, nssv2122716, nssv2122712, nssv2122714, nssv2122710, nssv2122718, nssv2122709, nssv2122715, nssv2122713
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesC18orf25
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960275
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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