A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265793



Internal ID22208465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:14257410..14275662hg38UCSC Ensembl
Outerchr2:14397534..14415786hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210717
Supporting Variants
SamplesHG00732
Known GenesLINC00276
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265793
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