A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190668



Internal ID22341498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135374593..135403747hg38UCSC Ensembl
OuterchrX:134508518..134537672hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3829155
hg1929155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10298n152
Supporting Variantsnssv14269788, nssv14269248
SamplesNA19239, NA19240
Known GenesLOC100506790
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190668
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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