A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722800



Internal ID21749121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124960973..124960973hg38UCSC Ensembl
chr7:124601027..124601027hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17253109
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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