A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252958



Internal ID22330083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:128460078..128464756hg38UCSC Ensembl
Outerchr10:130258342..130263020hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg383312
hg193312
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230878
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252958
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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