A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605139



Internal ID21553444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63053806..63053806hg38UCSC Ensembl
chr1:63519477..63519477hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066162
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605139
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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