A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010421



Internal ID74571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25346559..25346784hg38UCSC Ensembl
chr8:25204075..25204300hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493166
Supporting Variants
Samples
Known GenesDOCK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010421
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.229628


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