A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922209



Internal ID15566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170616404..170619362hg38UCSC Ensembl
chr2:171472914..171475872hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382959
hg192959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442885
Supporting Variants
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922209
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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