A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249240



Internal ID22377221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:84098346..84103630hg38UCSC Ensembl
Outerchr11:83809389..83814673hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254719
SamplesNA19239
Known GenesDLG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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