A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4746506



Internal ID20522520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38936768..38936911hg38UCSC Ensembl
chr2:39163909..39164052hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281520
Samples
Known GenesARHGEF33
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4746506
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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