A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703785



Internal ID127451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:99708759..100311914hg38UCSC Ensembl
chr15:100248964..100852119hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38603156
hg19603156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531435
Supporting Variants
Samples
Known GenesADAMTS17, DNM1P46, LYSMD4, MEF2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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