A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235971



Internal ID21683480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53669637..53669637hg38UCSC Ensembl
chr2:53896774..53896774hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727052
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)nssv17235971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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