A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234717



Internal ID22373107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63350676..63362913hg38UCSC Ensembl
Outerchr20:61982028..61994265hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381587
hg191587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266989, nssv14266990, nssv14266992, nssv14266995, nssv14266994, nssv14266991, nssv14266993, nssv14266987, nssv14266988
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCHRNA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234717
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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