A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419247



Internal ID198385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29154307..29154472hg38UCSC Ensembl
chr1:29480819..29480984hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900508
Samples
Known GenesSRSF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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