A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692547



Internal ID21718868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210231630..210231630hg38UCSC Ensembl
chr1:210404975..210404975hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188816
Samples
Known GenesSERTAD4-AS1
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)nsv5692547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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