A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928551



Internal ID19751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231118124..231118124hg38UCSC Ensembl
chr2:231982838..231982838hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400217
Supporting Variants
Samples
Known GenesHTR2B, PSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928551
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.028352


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