A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979185



Internal ID18267702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233681780..233682902hg38UCSC Ensembl
Innerchr2:234590426..234591548hg19UCSC Ensembl
Innerchr2:234255165..234256287hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381123
hg191123
hg181123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2224823, nssv2224815, nssv2224819, nssv2224821, nssv2224816, nssv2224817, nssv2224822, nssv2224818, nssv2224824, nssv2224820
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUGT1A10, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979185
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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