A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111299



Internal ID21505676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220743982..220744208hg38UCSC Ensembl
chr2:221608702..221608928hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575220
Supporting Variants
SamplesNA19650
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111299
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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