A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694751



Internal ID21721072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63488543..63488543hg38UCSC Ensembl
chr17:61565904..61565904hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218137, nssv17198454
Samples
Known GenesACE
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)nsv5694751
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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