A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214949



Internal ID22361440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:91826258..91927610hg38UCSC Ensembl
OuterchrX:91081257..91182609hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270457
SamplesNA19239
Known GenesPCDH11X
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214949
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer