A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17213656



Internal ID21661165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42002262..42002262hg38UCSC Ensembl
chr4:42004279..42004279hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675950
Supporting Variants
Samples
Known GenesSLC30A9
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)nssv17213656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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