A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722050



Internal ID21748371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87323033..87323033hg38UCSC Ensembl
chr6:88032751..88032751hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250371
Samples
Known GenesGJB7, SMIM8
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)nsv5722050
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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