A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437298



Internal ID215890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225848590..225865586hg38UCSC Ensembl
chr1:226036291..226053286hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3816997
hg1916996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897431
Samples
Known GenesTMEM63A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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