A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983359



Internal ID18271867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101922441..101923664hg38UCSC Ensembl
Innerchr12:102316219..102317442hg19UCSC Ensembl
Innerchr12:100840350..100841573hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1943237, nssv1943240, nssv1943234, nssv1943235, nssv1943238, nssv1943239, nssv1943231, nssv1943233, nssv1943236, nssv1943232
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDRAM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983359
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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