A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613893



Internal ID21562198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183599423..183599423hg38UCSC Ensembl
chr1:183568558..183568558hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061980
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613893
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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