A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236724



Internal ID22373675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110816764..110822773hg38UCSC Ensembl
chrX:110059992..110066001hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14353891
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a L1PA2 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236724
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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