A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231540



Internal ID22372255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59467571..59476270hg38UCSC Ensembl
Outerchr18:57134803..57143502hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262911, nssv14262909, nssv14262908, nssv14262910, nssv14262912, nssv14262382, nssv14262383, nssv14262907
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesCCBE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231540
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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