A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946607



Internal ID18246771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205853789..205912748hg38UCSC Ensembl
Innerchr1:205822917..205881876hg19UCSC Ensembl
Innerchr1:204089540..204148499hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3858960
hg1958960
hg1858960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815145, nssv1815143, nssv1815149, nssv1815142, nssv1815147, nssv1815141, nssv1815148, nssv1815146, nssv1815144, nssv1815150
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC284581
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946607
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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