A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236027



Internal ID21683536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43559931..43559931hg38UCSC Ensembl
chr19:44064083..44064083hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727977
Supporting Variants
Samples
Known GenesXRCC1
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)nssv17236027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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