A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962874



Internal ID18251430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32129093..32130373hg38UCSC Ensembl
Innerchr18:29709056..29710336hg19UCSC Ensembl
Innerchr18:27963054..27964334hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381281
hg191281
hg181281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2122122, nssv2122120, nssv2122121, nssv2122129, nssv2122123, nssv2122126, nssv2122125, nssv2122124, nssv2122128, nssv2122127
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRNF138
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962874
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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