A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394927



Internal ID174353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238277748..238277748hg38UCSC Ensembl
chr1:238441048..238441048hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898483
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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