A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708628



Internal ID21734949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12840425..12840425hg38UCSC Ensembl
chr18:12840424..12840424hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230769, nssv17200497
Samples
Known GenesPTPN2
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)nsv5708628
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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