A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114589



Internal ID21409062
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 StatusS
Merged Variantsnsv5612499
Supporting Variants
SamplesHG00512
Known GenesBCL11A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114589
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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