A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204695



Internal ID22353504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32614353..32645623hg38UCSC Ensembl
OuterchrX:32632470..32663740hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3831271
hg1931271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269286
SamplesNA19240
Known GenesDMD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204695
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