A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234952



Internal ID21682461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12133670..12133670hg38UCSC Ensembl
chr17:12036987..12036987hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724327
Supporting Variants
Samples
Known GenesMAP2K4
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)nssv17234952
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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