A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473575



Internal ID251261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36172019..36176092hg38UCSC Ensembl
chr5:36172121..36176194hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg384074
hg194074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963397
Samples
Known GenesSKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473575
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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