A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245393



Internal ID22376132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74199276..74225113hg38UCSC Ensembl
Outerchr18:71866511..71892348hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg383076
hg193076
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263442, nssv14263447, nssv14263443, nssv14263444, nssv14262953, nssv14263445, nssv14262952, nssv14263446
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245393
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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