A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239846



Internal ID21687355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50200776..50200776hg38UCSC Ensembl
chr20:48817313..48817313hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722632
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)nssv17239846
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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