A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195909



Internal ID22346012
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273565, nssv14273567, nssv14273566
SamplesHG00512, HG00733, HG00514
Known GenesGALNT10, SAP30L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195909
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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