A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407952



Internal ID187282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20726505..20726556hg38UCSC Ensembl
chr4:20728128..20728179hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16946240
Samples
Known GenesPACRGL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407952
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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