A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197314



Internal ID22347212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:122235777..122250897hg38UCSC Ensembl
Outerchr5:121571472..121586592hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3815121
hg1915121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272664, nssv14272663, nssv14272661, nssv14272662, nssv14272665
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197314
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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