A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199750



Internal ID21647259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76129129..76129129hg38UCSC Ensembl
chr18:73841084..73841084hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697307
Supporting Variants
Samples
Known GenesLOC339298
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)nssv17199750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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