A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677969



Internal ID21704290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104412169..104412169hg38UCSC Ensembl
chr7:104052617..104052617hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215158, nssv17182668
Samples
Known GenesLHFPL3
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)nsv5677969
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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