A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235886



Internal ID21683395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55065393..55065393hg38UCSC Ensembl
chr2:55292529..55292529hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725826
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)nssv17235886
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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