A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978630



Internal ID18613833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49836302..49837515hg38UCSC Ensembl
Innerchr18:47362672..47363885hg19UCSC Ensembl
Innerchr18:45616670..45617883hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2124005, nssv2124011, nssv2124007, nssv2124003, nssv2124012, nssv2124004, nssv2124010, nssv2124008, nssv2124006, nssv2124009
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)nsv978630
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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