A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250053



Internal ID22377440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100661932..100682243hg38UCSC Ensembl
Outerchr8:101674160..101694471hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382850
hg192850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280659, nssv14280660, nssv14280658, nssv14280435
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250053
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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