A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6073554



Internal ID21982787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77420370..77420370hg38UCSC Ensembl
chr5:76716195..76716195hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17545729
Samples
Known GenesPDE8B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6073554
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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