A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17093474



Internal ID21486642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99199670..99199727hg38UCSC Ensembl
chr14:99666007..99666064hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5591621
Supporting Variants
SamplesNA12878
Known GenesBCL11B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17093474
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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