A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946489



Internal ID18593339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168202138..168216830hg38UCSC Ensembl
Innerchr1:168171376..168186068hg19UCSC Ensembl
Innerchr1:166438000..166452692hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3814693
hg1914693
hg1814693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1805446, nssv1805444, nssv1805443, nssv1805441, nssv1805445, nssv1805440, nssv1805442, nssv1805439, nssv1805447, nssv1805438
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)nsv946489
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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