A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200403



Internal ID22349857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109212586..109212703hg38UCSC Ensembl
chrX:108455815..108455932hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10232n152
Supporting Variantsnssv14438632
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200403
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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