A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983341



Internal ID18618535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65644887..65646353hg38UCSC Ensembl
Innerchr12:66038667..66040133hg19UCSC Ensembl
Innerchr12:64324934..64326400hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381467
hg191467
hg181467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1936516, nssv1936517, nssv1936521, nssv1936513, nssv1936515, nssv1936514, nssv1936522, nssv1936518, nssv1936520, nssv1936519
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)nsv983341
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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