A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711334



Internal ID21737655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14764008..14764008hg38UCSC Ensembl
chr18:14764007..14764007hg19UCSC Ensembl
Cytoband18p11.21
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 Variantsnssv17201462, nssv17213984
Samples
Known GenesANKRD30B
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)nsv5711334
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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