A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111443



Internal ID21468138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218802015..218802015hg38UCSC Ensembl
chr2:219666738..219666738hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620803
Supporting Variants
SamplesHG03125
Known GenesCYP27A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111443
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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