A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272985



Internal ID22265203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102937334..102970159hg38UCSC Ensembl
Outerchr4:103858491..103891316hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3832826
hg1932826
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191885
Supporting Variants
SamplesNA19238
Known GenesSLC9B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272985
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