A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748374



Internal ID20524399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17853277..17853354hg38UCSC Ensembl
chr2:18034544..18034621hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284093
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748374
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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