A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716678



Internal ID21742999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12534901..12534901hg38UCSC Ensembl
chr1:12594925..12594925hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242539
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)nsv5716678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer