A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468627



Internal ID246422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149063489..149066559hg38UCSC Ensembl
chr5:148443052..148446122hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383071
hg193071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974724
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468627
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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