A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718929



Internal ID21745250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112912662..112912662hg38UCSC Ensembl
chr5:112248359..112248359hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242197, nssv17248616
Samples
Known GenesREEP5
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)nsv5718929
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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