A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244458



Internal ID21691967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97293370..97293370hg38UCSC Ensembl
chr9:100055652..100055652hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728592
Supporting Variants
Samples
Known GenesLOC100499484, LOC100499484-C9ORF174
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)nssv17244458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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