A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248155



Internal ID21695664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51559879..51559879hg38UCSC Ensembl
chr20:50176418..50176418hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382065
hg192065
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721526
Supporting Variants
Samples
Known GenesNFATC2
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)nssv17248155
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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