A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227501



Internal ID22369977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25068811..25073234hg38UCSC Ensembl
Outerchr8:24926326..24930749hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382972
hg192972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279743, nssv14279742, nssv14279741, nssv14279740
SamplesHG00512, NA19238, HG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227501
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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