A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281299



Internal ID22254646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:126868431..126893075hg38UCSC Ensembl
Outerchr9:129630710..129655354hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3824645
hg1924645
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217977
Supporting Variants
SamplesNA19238
Known GenesZBTB34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281299
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