A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727117



Internal ID150783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42996557..42996563hg38UCSC Ensembl
chr21:44416667..44416673hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420902
Supporting Variants
Samples
Known GenesPKNOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004527


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