A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402497



Internal ID181867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107675852..107675903hg38UCSC Ensembl
chr5:107011553..107011604hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972232
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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