A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272032



Internal ID22189592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186645958..186659713hg38UCSC Ensembl
Outerchr3:186363747..186377502hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215435
Supporting Variants
SamplesHG00731
Known GenesFETUB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272032
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