A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237563



Internal ID21685072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64795746..64795746hg38UCSC Ensembl
chr1:65261429..65261429hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717247
Supporting Variants
Samples
Known GenesRAVER2
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)nssv17237563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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