A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223585



Internal ID22367307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55552811..55653716hg38UCSC Ensembl
OuterchrX:55579244..55680149hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg386209
hg196209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269771, nssv14269770
SamplesHG00512, NA19239
Known GenesFOXR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223585
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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