A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275098



Internal ID22136369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:119301222..119342374hg38UCSC Ensembl
Outerchr4:120222377..120263529hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3841153
hg1941153
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190718
Supporting Variants
SamplesHG00513
Known GenesC4orf3, FABP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275098
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