A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254384



Internal ID22272591
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225799
Supporting Variants
SamplesNA19239
Known GenesMAML2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254384
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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