A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238608



Internal ID22374207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30122611..30127866hg38UCSC Ensembl
Outerchr16:30133932..30139187hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259752, nssv14259746, nssv14259748, nssv14259751, nssv14259745, nssv14259749, nssv14259753, nssv14259750, nssv14259747
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMAPK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238608
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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