A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983319



Internal ID18618513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47341016..47344910hg38UCSC Ensembl
Innerchr12:47734799..47738693hg19UCSC Ensembl
Innerchr12:46021066..46024960hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383895
hg193895
hg183895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1928583, nssv1928586, nssv1928584, nssv1928582, nssv1928587, nssv1928588, nssv1928589, nssv1928585, nssv1928590, nssv1928581
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)nsv983319
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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