A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438916



Internal ID217466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170249051..170249294hg38UCSC Ensembl
chr2:171105561..171105804hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922187
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438916
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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