A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5574694



Internal ID21523113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45789559..45789612hg38UCSC Ensembl
chr3:45831051..45831104hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137348
SamplesHG00731
Known GenesSLC6A20
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5574694
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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