A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540553



Internal ID22409176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101433006..101433006hg38UCSC Ensembl
chrX:100687994..100687994hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429875
SamplesHG00514
Known GenesARMCX4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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