A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012739



Internal ID76164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57371646..57371646hg38UCSC Ensembl
chr8:58284205..58284205hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549341
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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