A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473120



Internal ID250815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157653448..157692688hg38UCSC Ensembl
chr5:157080456..157119696hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3839241
hg1939241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977335
Samples
Known GenesC5orf52
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473120
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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