A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1817593



Internal ID17826623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220266456..220267772hg38UCSC Ensembl
Innerchr1:220439798..220441114hg19UCSC Ensembl
Innerchr1:218506421..218507737hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381317
hg191317
hg181317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945298
Supporting Variants
SamplesHGDP00998
Known GenesAURKAPS1, RAB3GAP2
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)nssv1817593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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