A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204335



Internal ID22353202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79641401..79676548hg38UCSC Ensembl
OuterchrX:78896898..78932045hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3835148
hg1935148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269464
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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