A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200597



Internal ID21648106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51157577..51157577hg38UCSC Ensembl
chr17:49234938..49234938hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701410
Supporting Variants
Samples
Known GenesNME1, NME1-NME2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17200597
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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