A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922238



Internal ID15584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170964464..170989616hg38UCSC Ensembl
chr2:171820974..171846126hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3825153
hg1925153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436664
Supporting Variants
Samples
Known GenesGORASP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922238
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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