A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414056



Internal ID193342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151233526..151272353hg38UCSC Ensembl
chr1:151206002..151244829hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3838828
hg1938828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890265
Samples
Known GenesPIP5K1A, PSMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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