A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418174



Internal ID197356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151237389..151263593hg38UCSC Ensembl
chr1:151209865..151236069hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3826205
hg1926205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890266
Samples
Known GenesPIP5K1A, PSMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418174
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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