A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246652



Internal ID22376476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51422630..51428788hg38UCSC Ensembl
Outerchr18:48949000..48955158hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262886, nssv14262890, nssv14262885, nssv14262891, nssv14262889, nssv14262888, nssv14262887
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesLOC100287225
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246652
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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