A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248456



Internal ID21695965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28493775..28493775hg38UCSC Ensembl
chr16:28505096..28505096hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728917
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)nssv17248456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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