A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531435



Internal ID307394
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 StatusM
Merged Variants
Supporting Variantsnssv17703785
Samples
Known GenesADAMTS17, DNM1P46, LYSMD4, MEF2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531435
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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