A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208186



Internal ID22356469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1271855..1387455hg38UCSC Ensembl
chrX:1390748..1506348hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38115601
hg19115601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9947n152
Supporting Variantsnssv14391926, nssv14439634
SamplesNA19240, HG00733
Known GenesCSF2RA, IL3RA, MIR3690, MIR3690-2, SLC25A6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208186
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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