A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235294



Internal ID22373256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141996133..142022071hg38UCSC Ensembl
Outerchr8:143077494..143103432hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280594, nssv14280593, nssv14280596, nssv14280595, nssv14280592
SamplesHG00512, NA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235294
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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