A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464760



Internal ID242631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122474074..122475336hg38UCSC Ensembl
chr5:121809769..121811031hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381263
hg191263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973395
Samples
Known GenesMGC32805
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464760
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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