A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961057



Internal ID18596304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:62442113..62443661hg38UCSC Ensembl
Innerchr18:60109346..60110894hg19UCSC Ensembl
Innerchr18:58260326..58261874hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381549
hg191549
hg181549
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2126241, nssv2126250, nssv2126245, nssv2126244, nssv2126247, nssv2126249, nssv2126242, nssv2126243, nssv2126246, nssv2126248
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)nsv961057
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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