A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114591



Internal ID21495419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60467461..60467461hg38UCSC Ensembl
chr2:60694596..60694596hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620269
Supporting Variants
SamplesNA19238
Known GenesBCL11A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114591
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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