A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983293



Internal ID18618487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22595644..22597199hg38UCSC Ensembl
Innerchr12:22748578..22750133hg19UCSC Ensembl
Innerchr12:22639845..22641400hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381556
hg191556
hg181556
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1921050, nssv1921047, nssv1921049, nssv1921046, nssv1921043, nssv1921045, nssv1921051, nssv1921044, nssv1921052, nssv1921048
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)nsv983293
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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