A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137348



Internal ID21417818
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 StatusS
Merged Variantsnsv5574694
Supporting Variants
SamplesHG00731
Known GenesSLC6A20
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137348
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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