A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946574



Internal ID18246738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200913799..200915445hg38UCSC Ensembl
Innerchr1:200882927..200884573hg19UCSC Ensembl
Innerchr1:199149550..199151196hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811418, nssv1811419, nssv1811415, nssv1811422, nssv1811423, nssv1811414, nssv1811417, nssv1811420, nssv1811421, nssv1811416
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesC1orf106
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946574
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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