A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724252



Internal ID21750573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151064385..151064385hg38UCSC Ensembl
chr1:151036861..151036861hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251536
Samples
Known GenesMLLT11
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)nsv5724252
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