A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922804



Internal ID15959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199435853..199441575hg38UCSC Ensembl
chr2:200300576..200306298hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385723
hg195723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440371
Supporting Variants
Samples
Known GenesSATB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922804
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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