A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975482



Internal ID18610690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43659569..43661697hg38UCSC Ensembl
Innerchr12:44053372..44055500hg19UCSC Ensembl
Innerchr12:42339639..42341767hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382129
hg192129
hg182129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1928076, nssv1928081, nssv1928079, nssv1928080, nssv1928072, nssv1928073, nssv1928078, nssv1928077, nssv1928074, nssv1928075
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)nsv975482
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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