A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729144



Internal ID21755465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31786002..31786002hg38UCSC Ensembl
chr18:29365965..29365965hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235222
Samples
Known Genes
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)nsv5729144
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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