A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251191



Internal ID21698700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23913064..23913064hg38UCSC Ensembl
chr3:23954555..23954555hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725330
Supporting Variants
Samples
Known GenesNKIRAS1
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)nssv17251191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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