A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531364



Internal ID307324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3206000..3412000hg38UCSC Ensembl
chr18:3205998..3411998hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38206001
hg19206001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715919
Samples
Known GenesMYL12A, MYL12B, MYOM1, TGIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531364
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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