A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114972



Internal ID21411404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70325436..70325622hg38UCSC Ensembl
chr2:70552568..70552754hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5582228
Supporting Variants
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114972
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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