A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944000



Internal ID22719458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39387653..39412021hg38UCSC Ensembl
chr19:39878293..39902661hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3824369
hg1924369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399305
Samples
Known GenesMED29, MIR4530, PAF1, ZFP36
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944000
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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