A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250181



Internal ID21697690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19512668..19512668hg38UCSC Ensembl
chr16:19523990..19523990hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715716
Supporting Variants
Samples
Known GenesGDE1
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)nssv17250181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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