A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227044



Internal ID22369656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30734407..30752123hg38UCSC Ensembl
Outerchr8:30591924..30609640hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279777, nssv14279773, nssv14279774, nssv14279772, nssv14279769, nssv14279771, nssv14279770, nssv14279776, nssv14279775
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesUBXN8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227044
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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