A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240095



Internal ID21687604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38886392..38886392hg38UCSC Ensembl
chr1:39352064..39352064hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719715
Supporting Variants
Samples
Known GenesRHBDL2
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)nssv17240095
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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