A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875745



Internal ID22650703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150117415..150117751hg38UCSC Ensembl
chr1:150089533..150089869hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354296
Samples
Known GenesVPS45
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875745
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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