A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259010



Internal ID22201296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99914874..99978460hg38UCSC Ensembl
Outerchr14:100381211..100444797hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237709
Supporting Variants
SamplesHG00732
Known GenesEML1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259010
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