A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726536



Internal ID150202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29762684..29762735hg38UCSC Ensembl
chr21:31135003..31135054hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422959
Supporting Variants
Samples
Known GenesGRIK1, GRIK1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007399


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