A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452529



Internal ID230680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190455203..190455969hg38UCSC Ensembl
chr2:191319929..191320695hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923257
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452529
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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