A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689669



Internal ID21715990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100174945..100174945hg38UCSC Ensembl
chr7:99772568..99772568hg19UCSC Ensembl
Cytoband7q22.1
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 Variantsnssv17183046, nssv17232548
Samples
Known GenesGPC2
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)nsv5689669
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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