A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734812



Internal ID158478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43331502..43332636hg38UCSC Ensembl
chr21:44751382..44752516hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540004
Supporting Variants
Samples
Known GenesLINC00322
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001717


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