A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063246



Internal ID21440959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230315793..230316048hg38UCSC Ensembl
chr1:230451539..230451794hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5583838
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063246
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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