A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274520



Internal ID22118307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7486127..7501238hg38UCSC Ensembl
Outerchr4:7487854..7502965hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3815112
hg1915112
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198504
Supporting Variants
SamplesHG00512
Known GenesSORCS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274520
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