A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718305



Internal ID21744626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:78991613..78991613hg38UCSC Ensembl
chr10:80751370..80751370hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252081
Samples
Known GenesZMIZ1-AS1
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)nsv5718305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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