A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720914



Internal ID21747235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71415001..71415001hg38UCSC Ensembl
chr4:72280718..72280718hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250519
Samples
Known GenesSLC4A4
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)nsv5720914
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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