A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191695



Internal ID22342367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148169613..148181337hg38UCSC Ensembl
Outerchr5:147549176..147560900hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3811725
hg1911725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273331, nssv14273328, nssv14273329, nssv14273330
SamplesNA19239, HG00731, HG00732, HG00513
Known GenesSPINK14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191695
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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