A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009786



Internal ID74167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42447074..42447410hg38UCSC Ensembl
chr8:42304592..42304928hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492319
Supporting Variants
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009786
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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