A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1826116



Internal ID17389118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241828813..241833118hg38UCSC Ensembl
Innerchr1:241992115..241996420hg19UCSC Ensembl
Innerchr1:240058738..240063043hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384306
hg194306
hg184306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945406
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv1826116
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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