A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273586



Internal ID22139123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41559477..41631371hg38UCSC Ensembl
Outerchr5:41559579..41631473hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3871895
hg1971895
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201014
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273586
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