A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723961



Internal ID21750282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109727319..109727319hg38UCSC Ensembl
chrX:108970548..108970548hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239092
Samples
Known GenesACSL4
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)nsv5723961
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