A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200342



Internal ID22349809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:90323367..90325381hg38UCSC Ensembl
chrX:89578366..89580380hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg382015
hg192015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10201n152
Supporting Variantsnssv14386873
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200342
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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