A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114539



Internal ID21488739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58184599..58184599hg38UCSC Ensembl
chr2:58411734..58411734hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622840
Supporting Variants
SamplesNA18939
Known GenesFANCL
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114539
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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