A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728885



Internal ID21755206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138023869..138023869hg38UCSC Ensembl
chr5:137359558..137359558hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250622
Samples
Known GenesFAM13B
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)nsv5728885
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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