A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414598



Internal ID22472468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6546616..6558496hg38UCSC Ensembl
chr4:6548343..6560223hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3811881
hg1911881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894259
Supporting Variants
Samples
Known GenesPPP2R2C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414598
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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