A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698514



Internal ID21724835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33532025..33532025hg38UCSC Ensembl
chr17:31859044..31859044hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229205, nssv17200566
Samples
Known GenesAA06, ASIC2
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)nsv5698514
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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