A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889518



Internal ID22664537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185382988..185391380hg38UCSC Ensembl
chr3:185100776..185109168hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg388393
hg198393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427404
Samples
Known GenesMAP3K13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889518
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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