A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946487



Internal ID18246651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168053399..168056534hg38UCSC Ensembl
Innerchr1:168022637..168025772hg19UCSC Ensembl
Innerchr1:166289261..166292396hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg383136
hg193136
hg183136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1805033, nssv1805030, nssv1805029, nssv1805035, nssv1805032, nssv1805028, nssv1805036, nssv1805031, nssv1805037, nssv1805034
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDCAF6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946487
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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