A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452495



Internal ID230647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231337879..231338236hg38UCSC Ensembl
chr1:231473625..231473982hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896402
Samples
Known GenesSPRTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452495
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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