A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906488



Internal ID5119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95938197..95938197hg38UCSC Ensembl
chr1:96403753..96403753hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405815
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03127


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