A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695596



Internal ID21721917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20265715..20265715hg38UCSC Ensembl
chr17:20169028..20169028hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222541, nssv17197375
Samples
Known GenesSPECC1
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)nsv5695596
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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