A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250254



Internal ID21697763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107957014..107957014hg38UCSC Ensembl
chr6:108278218..108278218hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724640
Supporting Variants
Samples
Known GenesSEC63
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)nssv17250254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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