A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727619



Internal ID21753940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2247728..2247728hg38UCSC Ensembl
chr16:2297729..2297729hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239419, nssv17238087
Samples
Known GenesECI1
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)nsv5727619
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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