A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738574



Internal ID20514544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167434894..167435108hg38UCSC Ensembl
chr1:167404131..167404345hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16289748
Samples
Known GenesCD247
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4738574
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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