A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266801



Internal ID22270976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3445720..3453965hg38UCSC Ensembl
Outerchr2:3449491..3457736hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381526
hg191526
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221222
Supporting Variants
SamplesNA19239
Known GenesTRAPPC12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266801
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