A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220847



Internal ID22365429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37758411..37785718hg38UCSC Ensembl
Outerchr1:38224083..38251390hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261703, nssv14261709, nssv14261704, nssv14261707, nssv14261711, nssv14261710, nssv14261708, nssv14261706, nssv14261705
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEPHA10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220847
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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