A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973079



Internal ID18608294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59019497..59020902hg38UCSC Ensembl
Innerchr12:59413278..59414683hg19UCSC Ensembl
Innerchr12:57699545..57700950hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381406
hg191406
hg181406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934003, nssv1934009, nssv1934007, nssv1934008, nssv1934004, nssv1934012, nssv1934006, nssv1934005, nssv1934011, nssv1934010
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)nsv973079
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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