A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960274



Internal ID18248841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:44901131..44901922hg38UCSC Ensembl
Innerchr18:42481096..42481887hg19UCSC Ensembl
Innerchr18:40735094..40735885hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38792
hg19792
hg18792
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2122618, nssv2122615, nssv2122617, nssv2122620, nssv2122619, nssv2122612, nssv2122621, nssv2122616, nssv2122613, nssv2122614
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSETBP1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960274
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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