A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208442



Internal ID22356683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89008976..89013287hg38UCSC Ensembl
Outerchr1:89474659..89478970hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg384312
hg194312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258773, nssv14258772
SamplesHG00732, HG00733
Known GenesGBP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208442
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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