A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858537



Internal ID22042180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59804553..59804553hg38UCSC Ensembl
chr5:59100379..59100379hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260388
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858537
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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