A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569494



Internal ID21517852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43308399..43308456hg38UCSC Ensembl
chr1:43774070..43774127hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065359
SamplesHG00864
Known GenesTIE1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569494
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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