A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201186



Internal ID22350529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148158649..148176800hg38UCSC Ensembl
Outerchr5:147538212..147556363hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3818152
hg1918152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272701, nssv14272704, nssv14272702, nssv14272703
SamplesNA19238, HG00731, HG00733, HG00513
Known GenesSPINK14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201186
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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