A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727015



Internal ID150681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41757542..41786725hg38UCSC Ensembl
chr21:43177702..43206885hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3829184
hg1929184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550118
Supporting Variants
Samples
Known GenesRIPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727015
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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