A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243286



Internal ID21690795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30760116..30760116hg38UCSC Ensembl
chr16:30771437..30771437hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729231
Supporting Variants
Samples
Known GenesC16orf93, PHKG2
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)nssv17243286
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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