A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704145



Internal ID127811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89845400..89854066hg38UCSC Ensembl
chr15:90388632..90397298hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg388667
hg198667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146172
Supporting Variants
Samples
Known GenesAP3S2, C15orf38-AP3S2, MIR5094
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704145
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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