A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17703788



Internal ID127454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:99739544..99864322hg38UCSC Ensembl
chr15:100279749..100404527hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38124779
hg19124779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522373
Supporting Variants
Samples
Known GenesDNM1P46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17703788
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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