A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273003



Internal ID22284408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:107188323..107210908hg38UCSC Ensembl
Outerchr4:108109480..108132065hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3822586
hg1922586
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192978
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273003
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