A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244463



Internal ID21691972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28403654..28403654hg38UCSC Ensembl
chr17:26730672..26730672hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717512
Supporting Variants
Samples
Known GenesSLC46A1
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)nssv17244463
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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