A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963314



Internal ID22738249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149889081..149889081hg38UCSC Ensembl
chr5:149268644..149268644hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409815
Samples
Known GenesPDE6A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963314
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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