A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946566



Internal ID18593416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197689930..197692598hg38UCSC Ensembl
Innerchr1:197659060..197661728hg19UCSC Ensembl
Innerchr1:195925683..195928351hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382669
hg192669
hg182669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811271, nssv1811278, nssv1811279, nssv1811272, nssv1811277, nssv1811280, nssv1811273, nssv1811276, nssv1811274, nssv1811275
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDENND1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946566
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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