A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5841182



Internal ID22616117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149881747..149882939hg38UCSC Ensembl
chr5:149261310..149262502hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17496275, nssv17496276
Samples
Known GenesPDE6A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5841182
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer