A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943968



Internal ID22719425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4120853..4120946hg38UCSC Ensembl
chr19:4120851..4120944hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399525
Samples
Known GenesMAP2K2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943968
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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