A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719608



Internal ID21745929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3186661..3186661hg38UCSC Ensembl
chr18:3186659..3186659hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249811, nssv17237076
Samples
Known GenesMYOM1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5719608
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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