A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210575



Internal ID22358428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54497690..54550979hg38UCSC Ensembl
OuterchrX:54524123..54577412hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg382304
hg192304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269769, nssv14269768
SamplesNA19239, NA19240
Known GenesGNL3L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210575
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