A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884477



Internal ID22659460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46349004..46349330hg38UCSC Ensembl
chr1:46814676..46815002hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387268
Samples
Known GenesNSUN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884477
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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