A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229578



Internal ID22371384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36324909..36454803hg38UCSC Ensembl
Outerchr17:34651510..34815071hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38129895
hg19163562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260768
SamplesNA19239
Known GenesTBC1D3G, TBC1D3H
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229578
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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