A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248852



Internal ID22377112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76925196..76969538hg38UCSC Ensembl
Outerchr18:74637152..74681494hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263460, nssv14263462, nssv14263459, nssv14263465, nssv14263464, nssv14263467, nssv14263466, nssv14263463, nssv14263461
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZNF236
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248852
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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