A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978594



Internal ID18613797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3254962..3255939hg38UCSC Ensembl
Innerchr18:3254960..3255937hg19UCSC Ensembl
Innerchr18:3244960..3245937hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38978
hg19978
hg18978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2112228, nssv2112494, nssv2112229, nssv2112493, nssv2112491, nssv2112495, nssv2112490, nssv2112489, nssv2112492, nssv2112230
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYL12A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978594
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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