A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946582



Internal ID18593432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202470427..202472541hg38UCSC Ensembl
Innerchr1:202439555..202441669hg19UCSC Ensembl
Innerchr1:200706178..200708292hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382115
hg192115
hg182115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813078, nssv1813087, nssv1813084, nssv1813086, nssv1813085, nssv1813082, nssv1813079, nssv1813081, nssv1813083, nssv1813080
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP1R12B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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