A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16273249



Internal ID20482467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53671692..53671880hg38UCSC Ensembl
chr2:53898829..53899017hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4741556
Supporting Variants
Samples
Known GenesASB3, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16273249
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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