A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243222



Internal ID22375507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132053414..132078077hg38UCSC Ensembl
Outerchr11:131923308..131947971hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg385509
hg195509
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254971, nssv14254970
SamplesHG00731, HG00733
Known GenesNTM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243222
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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