A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955860



Internal ID22731056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46360250..46360250hg38UCSC Ensembl
chr1:46825922..46825922hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379359
Samples
Known GenesNSUN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955860
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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