A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946484



Internal ID18593334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:166489291..166492413hg38UCSC Ensembl
Innerchr1:166458528..166461650hg19UCSC Ensembl
Innerchr1:164725152..164728274hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg383123
hg193123
hg183123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804054, nssv1804052, nssv1804055, nssv1804051, nssv1804056, nssv1804049, nssv1804050, nssv1804053, nssv1804048, nssv1804057
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)nsv946484
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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