A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468130



Internal ID245933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21394000..21542548hg38UCSC Ensembl
chr5:21394109..21542657hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38148549
hg19148549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965108
Samples
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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