A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220214



Internal ID22364983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100543180..100556606hg38UCSC Ensembl
Outerchr8:101555408..101568834hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3813427
hg1913427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278875
SamplesHG00513
Known GenesANKRD46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220214
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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