A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253480



Internal ID22219915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:23547020..23564080hg38UCSC Ensembl
Outerchr10:23835949..23853009hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg383368
hg193368
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231954
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253480
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