A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1828899



Internal ID17810618
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 StatusS
Merged Variantsnsv945443
Supporting Variants
SamplesHGDP00927
Known GenesOR2L13, OR2L8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1828899
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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