A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229569



Internal ID22371378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2211851..2286726hg38UCSC Ensembl
OuterchrX:2129893..2204767hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9993n152
Supporting Variantsnssv14269745
SamplesNA19239
Known GenesDHRSX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229569
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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