A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238137



Internal ID21685646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33715747..33715747hg38UCSC Ensembl
chr20:32303553..32303553hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718028
Supporting Variants
Samples
Known GenesPXMP4
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)nssv17238137
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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