A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717726



Internal ID21744047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156644656..156644656hg38UCSC Ensembl
chr7:156437350..156437350hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246139
Samples
Known GenesRNF32
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)nsv5717726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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