A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976589



Internal ID18265109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27581749..27582868hg38UCSC Ensembl
Innerchr12:27734682..27735801hg19UCSC Ensembl
Innerchr12:27625949..27627068hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381120
hg191120
hg181120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919978, nssv1919984, nssv1919983, nssv1919975, nssv1919976, nssv1919982, nssv1919981, nssv1919977, nssv1919979, nssv1919980
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPFIBP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976589
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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