A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623991



Internal ID21572296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20149293..20149293hg38UCSC Ensembl
chr1:20475786..20475786hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062416
SamplesHG02818
Known GenesPLA2G2F
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623991
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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