A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609259



Internal ID21557564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207930514..207930514hg38UCSC Ensembl
chr1:208103859..208103859hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062605
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609259
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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