A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245017



Internal ID22376022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:132884214..132911140hg38UCSC Ensembl
Outerchr8:133896459..133923385hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280988, nssv14280990, nssv14280662, nssv14280989, nssv14280991
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known GenesTG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245017
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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