A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553175



Internal ID326447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2694524..2694524hg38UCSC Ensembl
chr6:2694758..2694758hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978435
Samples
Known GenesMYLK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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