A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273626



Internal ID22133639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154421821..154446760hg38UCSC Ensembl
Outerchr5:153801381..153826320hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3824940
hg1924940
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193711
Supporting Variants
SamplesHG00513
Known GenesSAP30L, SAP30L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273626
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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