A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723592



Internal ID21749913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3118796..3118796hg38UCSC Ensembl
chr18:3118794..3118794hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38895
hg19895
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249131, nssv17236127
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)nsv5723592
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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