A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570094



Internal ID21518458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65575256..65578218hg38UCSC Ensembl
chr1:66040939..66043901hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382963
hg192963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066361
SamplesHG03371
Known GenesLEPR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570094
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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