A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689471



Internal ID21715792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1927016..1927016hg38UCSC Ensembl
chr4:1928743..1928743hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230341, nssv17210179
Samples
Known GenesWHSC1
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)nsv5689471
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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