A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723208



Internal ID21749529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27428495..27428495hg38UCSC Ensembl
chr7:27468114..27468114hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234443
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)nsv5723208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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