A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733755



Internal ID157421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5032000..5039000hg38UCSC Ensembl
chr21:45644544..45651380hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387001
hg196837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146690
Supporting Variants
Samples
Known GenesICOSLG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733755
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001197


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