A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250861



Internal ID21698370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45090484..45090484hg38UCSC Ensembl
chr17:43167852..43167852hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723133
Supporting Variants
Samples
Known GenesNMT1
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)nssv17250861
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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