A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063362



Internal ID21464690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219941483..219941483hg38UCSC Ensembl
chr1:220114825..220114825hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5605384
Supporting Variants
SamplesHG03065
Known GenesRNU5F-1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063362
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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