A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723112



Internal ID21749433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175580956..175580956hg38UCSC Ensembl
chr1:175550092..175550092hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240962
Samples
Known GenesTNR
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)nsv5723112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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