A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280863



Internal ID22136511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:35929997..35933043hg38UCSC Ensembl
Outerchr10:36218925..36221971hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg383047
hg193047
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224928
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280863
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