A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946401



Internal ID18246565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153991361..153992953hg38UCSC Ensembl
Innerchr1:153963837..153965429hg19UCSC Ensembl
Innerchr1:152230461..152232053hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381593
hg191593
hg181593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1799875, nssv1799877, nssv1799881, nssv1799878, nssv1799882, nssv1799874, nssv1799873, nssv1799880, nssv1799879, nssv1799876
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNUP210L, RPS27
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946401
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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