A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200328



Internal ID21647837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56997866..56997866hg38UCSC Ensembl
chr17:55075227..55075227hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5699559
Supporting Variants
Samples
Known GenesSCPEP1
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)nssv17200328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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