A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243580



Internal ID21691089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53523634..53523634hg38UCSC Ensembl
chr12:53917418..53917418hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729673
Supporting Variants
Samples
Known GenesATF7
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)nssv17243580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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