A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214611



Internal ID22361216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67541853..67582206hg38UCSC Ensembl
Outerchr15:67834191..67874544hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3840354
hg1940354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258778, nssv14258777, nssv14258775, nssv14258776
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesMAP2K5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214611
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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