A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434812



Internal ID213479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246071996..246130971hg38UCSC Ensembl
chr1:246235298..246294273hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3858976
hg1958976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899968
Samples
Known GenesSMYD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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