A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723685



Internal ID21750006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25149677..25149677hg38UCSC Ensembl
chr18:22729641..22729641hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251625
Samples
Known GenesZNF521
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5723685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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