A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211784



Internal ID22359229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:20663558..20742499hg38UCSC Ensembl
Outerchr7:20703181..20782122hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3878942
hg1978942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277778, nssv14277777
SamplesHG00732, HG00733
Known GenesABCB5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211784
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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