A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200928



Internal ID22350313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3837752..3940831hg38UCSC Ensembl
OuterchrX:3755793..3858872hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38103080
hg19103080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10006n152
Supporting Variantsnssv14268308, nssv14268307, nssv14268306
SamplesHG00512, NA19238, NA19239
Known GenesLOC389906
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200928
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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