A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718678



Internal ID21744999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11635013..11635013hg38UCSC Ensembl
chrX:11653133..11653133hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239611, nssv17249471
Samples
Known GenesARHGAP6
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5718678
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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