A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241748



Internal ID21689257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169528874..169528874hg38UCSC Ensembl
chr3:169246662..169246662hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719785
Supporting Variants
Samples
Known GenesMECOM
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)nssv17241748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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