A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241512



Internal ID22374989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:136950651..136977753hg38UCSC Ensembl
Outerchr8:137962894..137989996hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg381732
hg191732
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280687, nssv14280686
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241512
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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