A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245661



Internal ID21693170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73365874..73365874hg38UCSC Ensembl
chr13:73940011..73940011hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728858
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)nssv17245661
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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