A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973126



Internal ID18608341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118735136..118738380hg38UCSC Ensembl
Innerchr12:119172941..119176185hg19UCSC Ensembl
Innerchr12:117657324..117660568hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383245
hg193245
hg183245
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945799, nssv1945797, nssv1945795, nssv1945794, nssv1945792, nssv1945796, nssv1945790, nssv1945798, nssv1945791, nssv1945793
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)nsv973126
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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