A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968762



Internal ID46498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87222666..87222717hg38UCSC Ensembl
chr5:86518483..86518534hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400371
Supporting Variants
Samples
Known GenesLOC101929380
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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