A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945443



Internal ID18592294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247948923..247950313hg38UCSC Ensembl
Innerchr1:248112225..248113615hg19UCSC Ensembl
Innerchr1:246178848..246180238hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381391
hg191391
hg181391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1828893, nssv1828896, nssv1828897, nssv1828899, nssv1828892, nssv1828895, nssv1828898, nssv1828891, nssv1828890, nssv1828894
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOR2L13, OR2L8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945443
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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