A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696692



Internal ID21723013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80629070..80629070hg38UCSC Ensembl
chr8:81541305..81541305hg19UCSC Ensembl
Cytoband8q21.13
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 Variantsnssv17213813, nssv17184946
Samples
Known GenesZNF704
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)nsv5696692
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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