A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273565



Internal ID22125131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154410504..154434883hg38UCSC Ensembl
Outerchr5:153790064..153814443hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3824380
hg1924380
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195909
Supporting Variants
SamplesHG00512
Known GenesGALNT10, SAP30L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273565
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