A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9993n152



Internal ID22825696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2211851..2286726hg38UCSC Ensembl
chrX:2129893..2204767hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3874876
hg1974875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229569, nsv3228299
SamplesNA19238, NA19239
Known GenesDHRSX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9993n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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