A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222962



Internal ID22366868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:63772632..63803109hg38UCSC Ensembl
Outerchr8:64685190..64715666hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3830478
hg1930477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280963, nssv14280964
SamplesNA19238, HG00731
Known GenesLOC286184
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222962
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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