A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248299



Internal ID21695808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80288238..80288238hg38UCSC Ensembl
chr14:80754581..80754581hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724451
Supporting Variants
Samples
Known GenesDIO2-AS1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17248299
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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