A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909633



Internal ID7197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4990831..4990831hg38UCSC Ensembl
chr2:5130964..5130964hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401171
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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