A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010049



Internal ID74341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27084329..27087663hg38UCSC Ensembl
chr8:26941846..26945180hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383335
hg193335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142327
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0077


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