A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200941



Internal ID22350322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11717222..11717813hg38UCSC Ensembl
chrX:11735342..11735933hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10033n152
Supporting Variantsnssv14375764
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)nsv3200941
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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