A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730089



Internal ID153755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231428624..231437752hg38UCSC Ensembl
chr2:232293335..232302463hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg389129
hg199129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445686
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730089
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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