A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248105



Internal ID21695614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38604228..38604228hg38UCSC Ensembl
chr8:38461746..38461746hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723246
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)nssv17248105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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