A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272752



Internal ID22152573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:136115512..136264873hg38UCSC Ensembl
Outerchr4:137036667..137186028hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38149362
hg19149362
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204473
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272752
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