A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17497446



Internal ID22555380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60414495..60473581hg38UCSC Ensembl
chr5:59710322..59769408hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3859087
hg1959087
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5842793
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17497446
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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