A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942123



Internal ID22717555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66389625..66398801hg38UCSC Ensembl
chr15:66681963..66691139hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg389177
hg199177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375655
Samples
Known GenesMAP2K1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942123
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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