A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193711



Internal ID22344122
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273626, nssv14273627, nssv14273628, nssv14273629
SamplesHG00732, HG00733, HG00513, HG00514
Known GenesSAP30L, SAP30L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193711
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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