A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531281



Internal ID307243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29081452..29081524hg38UCSC Ensembl
chr17:27408470..27408542hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712401
Samples
Known GenesMYO18A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531281
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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