A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983287



Internal ID18271795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12690885..12691599hg38UCSC Ensembl
Innerchr12:12843819..12844533hg19UCSC Ensembl
Innerchr12:12735086..12735800hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38715
hg19715
hg18715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1917753, nssv1917754, nssv1917750, nssv1917751, nssv1917748, nssv1917746, nssv1917747, nssv1917752, nssv1917749, nssv1917745
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGPR19
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983287
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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