A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983366



Internal ID18271874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116575371..116580853hg38UCSC Ensembl
Innerchr12:117013176..117018658hg19UCSC Ensembl
Innerchr12:115497559..115503041hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg385483
hg195483
hg185483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945074, nssv1945073, nssv1945075, nssv1945077, nssv1945069, nssv1945076, nssv1945068, nssv1945071, nssv1945070, nssv1945072
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMAP1LC3B2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983366
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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