A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728842



Internal ID21755163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125289494..125289494hg38UCSC Ensembl
chr6:125610640..125610640hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234397
Samples
Known GenesHDDC2
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)nsv5728842
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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