A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889639



Internal ID22664658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149166254..149166800hg38UCSC Ensembl
chr3:148884041..148884587hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418702
Samples
Known GenesCP, HPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889639
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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