A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254462



Internal ID22117268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124890850..124911680hg38UCSC Ensembl
Outerchr11:124760746..124781576hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3820831
hg1920831
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219238
Supporting Variants
SamplesHG00512
Known GenesROBO4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254462
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer