A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522209



Internal ID298480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3072380..3101907hg38UCSC Ensembl
chr18:3072378..3101905hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3829528
hg1929528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715906
Samples
Known GenesMYOM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522209
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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