A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215635



Internal ID21663144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22678135..22678135hg38UCSC Ensembl
chr12:22831069..22831069hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702553
Supporting Variants
Samples
Known GenesETNK1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17215635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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