A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728880



Internal ID21755201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109409123..109409123hg38UCSC Ensembl
chr5:108744824..108744824hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240467
Samples
Known GenesPJA2
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)nsv5728880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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