A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018662



Internal ID80080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132543827..132543878hg38UCSC Ensembl
chr8:133556074..133556125hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558863
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018662
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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