A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724820



Internal ID21751141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27810419..27810419hg38UCSC Ensembl
chr7:27850038..27850038hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241320, nssv17236463
Samples
Known GenesTAX1BP1
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)nsv5724820
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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