A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923621



Internal ID16518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197199817..197204892hg38UCSC Ensembl
chr2:198064541..198069616hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385076
hg195076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435524
Supporting Variants
Samples
Known GenesANKRD44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923621
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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