A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708302



Internal ID21734623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33075370..33075370hg38UCSC Ensembl
chr17:31402388..31402388hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200560
Samples
Known GenesASIC2
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)nsv5708302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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