A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723466



Internal ID21749787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:17324843..17324843hg38UCSC Ensembl
chr7:17364467..17364467hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381237
hg191237
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241988
Samples
Known GenesAHR
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)nsv5723466
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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