A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1799874



Internal ID17401442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153991361..153992953hg38UCSC Ensembl
Innerchr1:153963837..153965429hg19UCSC Ensembl
Innerchr1:152230461..152232053hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381593
hg191593
hg181593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946401
Supporting Variants
SamplesHGDP00521
Known GenesNUP210L, RPS27
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)nssv1799874
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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