A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271534



Internal ID22197811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:76727824..76840389hg38UCSC Ensembl
Outerchr3:76776975..76889540hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38112566
hg19112566
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209375
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271534
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