A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212301



Internal ID22359594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78281252..78291535hg38UCSC Ensembl
Outerchr17:76277333..76287616hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810284
hg1910284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261331, nssv14261330, nssv14261332, nssv14261333
SamplesHG00512, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212301
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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