A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259502



Internal ID22118950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:312258..381702hg38UCSC Ensembl
Outerchr16:362258..431702hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381993
hg191993
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245894
Supporting Variants
SamplesHG00512
Known GenesAXIN1, MRPL28, TMEM8A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259502
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