A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010056



Internal ID74346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27148236..27157741hg38UCSC Ensembl
chr8:27005753..27015258hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg389506
hg199506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483396
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010056
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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