A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612131



Internal ID21560436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179836640..179836640hg38UCSC Ensembl
chr1:179805775..179805775hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061421
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612131
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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