A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9947n152



Internal ID22825650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1259653..1387455hg38UCSC Ensembl
chrX:1378546..1506348hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38127803
hg19127803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3208186, nsv3198629
SamplesNA19238, NA19240, HG00733
Known GenesCSF2RA, IL3RA, MIR3690, MIR3690-2, SLC25A6
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9947n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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