A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235204



Internal ID21682713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93589417..93589417hg38UCSC Ensembl
chr12:93983193..93983193hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717395
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)nssv17235204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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