A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621853



Internal ID21570158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234647..39234647hg38UCSC Ensembl
chr1:39700319..39700319hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065498
SamplesHG00731
Known GenesMACF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621853
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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