A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17188120



Internal ID21635629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43144635..43144635hg38UCSC Ensembl
chr10:43640083..43640083hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709542
Supporting Variants
Samples
Known GenesCSGALNACT2
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)nssv17188120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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