A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112043



Internal ID21424198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238500730..238501055hg38UCSC Ensembl
chr2:239409371..239409696hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5580816
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112043
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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