A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247256



Internal ID21694765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5837312..5837312hg38UCSC Ensembl
chr12:5946478..5946478hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727531
Supporting Variants
Samples
Known GenesANO2
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)nssv17247256
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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