A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975517



Internal ID18264039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:87780897..87784351hg38UCSC Ensembl
Innerchr12:88174674..88178128hg19UCSC Ensembl
Innerchr12:86698805..86702259hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg383455
hg193455
hg183455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1939465, nssv1939468, nssv1939467, nssv1939463, nssv1939466, nssv1939469, nssv1939461, nssv1939462, nssv1939464, nssv1939470
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMKRN9P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975517
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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