A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901046



Internal ID22676194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149850618..149890635hg38UCSC Ensembl
chr5:149230181..149270198hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3840018
hg1940018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427296
Samples
Known GenesPDE6A, PPARGC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901046
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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