A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983291



Internal ID18618485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19088726..19090584hg38UCSC Ensembl
Innerchr12:19241660..19243518hg19UCSC Ensembl
Innerchr12:19132927..19134785hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381859
hg191859
hg181859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1919337, nssv1919335, nssv1919343, nssv1919339, nssv1919342, nssv1919338, nssv1919334, nssv1919340, nssv1919341, nssv1919336
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)nsv983291
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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