A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945270



Internal ID22720745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60254594..60255338hg38UCSC Ensembl
chr14:60721312..60722056hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387103
Samples
Known GenesPPM1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945270
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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