A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5576663



Internal ID21525104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96422906..96422956hg38UCSC Ensembl
chr5:95758610..95758660hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141876
SamplesHG03125
Known GenesPCSK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5576663
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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