A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5580649



Internal ID21529142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60467459..60467821hg38UCSC Ensembl
chr2:60694594..60694956hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114590
SamplesHG00731
Known GenesBCL11A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5580649
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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