A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244733



Internal ID21692242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47563223..47563223hg38UCSC Ensembl
chr16:47597134..47597134hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716876
Supporting Variants
Samples
Known GenesPHKB
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)nssv17244733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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