A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467246



Internal ID245065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21150674..21475029hg38UCSC Ensembl
chr5:21150783..21475138hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38324356
hg19324356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965086
Samples
Known GenesGUSBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467246
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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