A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227172



Internal ID22369750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36187407..36460100hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38272694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3538n152
Supporting Variantsnssv14260769, nssv14260770
SamplesNA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227172
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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