A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358408



Internal ID22584077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243014030..243230600hg38UCSC Ensembl
chr1:243177332..243393902hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38216571
hg19216571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885645
Supporting Variants
Samples
Known GenesCEP170, LOC731275
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358408
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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