A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946304



Internal ID18246468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147223524..147225082hg38UCSC Ensembl
Innerchr1:146695116..146696674hg19UCSC Ensembl
Innerchr1:145161740..145163298hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381559
hg191559
hg181559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1791892, nssv1791889, nssv1791888, nssv1791893, nssv1791896, nssv1791894, nssv1791895, nssv1791887, nssv1791891, nssv1791890
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFMO5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946304
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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