A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199952



Internal ID21647461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49660051..49660051hg38UCSC Ensembl
chr17:47737413..47737413hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5697755
Supporting Variants
Samples
Known GenesSPOP
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)nssv17199952
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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