A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748172



Internal ID20524197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27783979..27784254hg38UCSC Ensembl
chr2:28006846..28007121hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288261
Samples
Known GenesRBKS
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748172
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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