A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946482



Internal ID18593332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:165818551..165820871hg38UCSC Ensembl
Innerchr1:165787788..165790108hg19UCSC Ensembl
Innerchr1:164054412..164056732hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg382321
hg192321
hg182321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1806110, nssv1806115, nssv1806112, nssv1806118, nssv1806116, nssv1806114, nssv1806111, nssv1806109, nssv1806113, nssv1806117
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)nsv946482
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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