A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921553



Internal ID15136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167988836..167992397hg38UCSC Ensembl
chr2:168845346..168848907hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383562
hg193562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446361
Supporting Variants
Samples
Known GenesSTK39
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921553
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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