A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734091



Internal ID157757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15040066..15040117hg38UCSC Ensembl
chr21:16412387..16412438hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425030
Supporting Variants
Samples
Known GenesNRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734091
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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