A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698197



Internal ID21724518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7730194..7730194hg38UCSC Ensembl
chr18:7730192..7730192hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200753, nssv17231711
Samples
Known GenesPTPRM
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5698197
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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