A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17115099



Internal ID21411373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8860224..8860294hg38UCSC Ensembl
chr2:9000354..9000424hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5573501
Supporting Variants
SamplesHG00513
Known GenesMBOAT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17115099
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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