A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467000



Internal ID244823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117301308..117302584hg38UCSC Ensembl
chr5:116637004..116638280hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972745
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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