A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270194



Internal ID22261347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:101638369..101657592hg38UCSC Ensembl
Outerchr3:101357213..101376436hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3819224
hg1919224
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204326
Supporting Variants
SamplesNA19238
Known GenesZBTB11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270194
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