A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236764



Internal ID21684273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139726640..139726640hg38UCSC Ensembl
chr4:140647794..140647794hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721539
Supporting Variants
Samples
Known GenesMAML3, MGST2
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)nssv17236764
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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