A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227248



Internal ID22369801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103619519..103637098hg38UCSC Ensembl
Outerchr10:105379276..105396856hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3817580
hg1917581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280481
SamplesHG00731
Known GenesSH3PXD2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227248
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