A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252661



Internal ID21700170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103594740..103594740hg38UCSC Ensembl
chr14:104061077..104061077hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726644
Supporting Variants
Samples
Known Genes
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)nssv17252661
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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