A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254132



Internal ID22117156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36279996..36325068hg38UCSC Ensembl
Outerchr11:36301546..36346618hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237537
Supporting Variants
SamplesHG00512
Known GenesCOMMD9, PRR5L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254132
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