A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207804



Internal ID22356143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:72510636..72519229hg38UCSC Ensembl
Outerchr3:72559787..72568380hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg388594
hg198594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6011n152
Supporting Variantsnssv14271081, nssv14271082
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207804
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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