A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874884



Internal ID22649838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220016141..220017009hg38UCSC Ensembl
chr1:220189483..220190351hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38869
hg19869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366927
Samples
Known GenesEPRS, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874884
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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