A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253413



Internal ID22116942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127713459..127755701hg38UCSC Ensembl
Outerchr10:129511723..129553965hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235479
Supporting Variants
SamplesHG00512
Known GenesFOXI2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253413
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