A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272860



Internal ID22198026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:148363887..148445599hg38UCSC Ensembl
Outerchr4:149285039..149366751hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3881713
hg1981713
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196662
Supporting Variants
SamplesHG00732
Known GenesNR3C2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272860
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