A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241396



Internal ID21688905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120763922..120763922hg38UCSC Ensembl
chr1:145249107..145249107hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730480
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
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)nssv17241396
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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