A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726499



Internal ID150165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29006350..29006401hg38UCSC Ensembl
chr21:30378671..30378722hg19UCSC 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 Variantsnsv5419167
Supporting Variants
Samples
Known GenesRWDD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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