A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010648



Internal ID74727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38193172..38198672hg38UCSC Ensembl
chr8:38050690..38056190hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488327
Supporting Variants
Samples
Known GenesBAG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010648
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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