A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983273



Internal ID18271781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9155652..9156355hg38UCSC Ensembl
Innerchr12:9308248..9308951hg19UCSC Ensembl
Innerchr12:9199515..9200218hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38704
hg19704
hg18704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1913820, nssv1913821, nssv1913819, nssv1913817, nssv1913822, nssv1913815, nssv1913824, nssv1913816, nssv1913818, nssv1913823
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPZP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983273
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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