A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200308



Internal ID21647817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55751675..55751675hg38UCSC Ensembl
chr17:53829036..53829036hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5699855
Supporting Variants
Samples
Known GenesPCTP
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)nssv17200308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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