A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960280



Internal ID18595533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49822995..49827430hg38UCSC Ensembl
Innerchr18:47349365..47353800hg19UCSC Ensembl
Innerchr18:45603363..45607798hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384436
hg194436
hg184436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2123929, nssv2123930, nssv2123924, nssv2123931, nssv2123925, nssv2123932, nssv2123926, nssv2123927, nssv2123928, nssv2123923
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYO5B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960280
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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