A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248900



Internal ID21696409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42230359..42230359hg38UCSC Ensembl
chr6:42198097..42198097hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720276
Supporting Variants
Samples
Known GenesTRERF1
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)nssv17248900
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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