A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612499



Internal ID21560804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60467399..60467399hg38UCSC Ensembl
chr2:60694534..60694534hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114589
SamplesHG00512
Known GenesBCL11A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612499
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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