A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517506



Internal ID293926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52420440..52425795hg38UCSC Ensembl
chr15:52712637..52717992hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg385356
hg195356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702760
Samples
Known GenesMYO5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517506
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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