A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945451



Internal ID18245616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248037663..248040886hg38UCSC Ensembl
Innerchr1:248200965..248204188hg19UCSC Ensembl
Innerchr1:246267588..246270811hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383224
hg193224
hg183224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1826921, nssv1826915, nssv1826919, nssv1826916, nssv1826914, nssv1826920, nssv1826913, nssv1826917, nssv1826922, nssv1826918
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesOR2L13, OR2L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945451
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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