A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225799



Internal ID22368820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:96264947..96275871hg38UCSC Ensembl
Outerchr11:95998111..96009035hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3810925
hg1910925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254384, nssv14254385
SamplesNA19239, NA19240
Known GenesMAML2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225799
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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