A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719414



Internal ID21745735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124914159..124914159hg38UCSC Ensembl
chr8:125926401..125926401hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240652, nssv17235691
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)nsv5719414
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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