A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550046



Internal ID323643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27887133..27887133hg38UCSC Ensembl
chr17:26214159..26214159hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712318
Samples
Known GenesLYRM9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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