A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5631259



Internal ID21579564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54732480..54732480hg38UCSC Ensembl
chr7:54800173..54800173hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381442
hg191442
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17147316
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5631259
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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