A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925313



Internal ID17622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142185426..142193564hg38UCSC Ensembl
chr2:142942995..142951133hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg388139
hg198139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444452
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925313
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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