A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438594



Internal ID217154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222702305..222702561hg38UCSC Ensembl
chr2:223567024..223567280hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923954
Samples
Known GenesMOGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438594
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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