A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953145



Internal ID36110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:80221945..80221996hg38UCSC Ensembl
chr4:81143099..81143150hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402570
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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