A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645397



Internal ID21593702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8085974..8085974hg38UCSC Ensembl
chr19:8150858..8150858hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17106556
SamplesNA19238
Known GenesFBN3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645397
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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