A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464594



Internal ID242471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171343276..171347165hg38UCSC Ensembl
chr5:170770280..170774169hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg383890
hg193890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977139
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464594
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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