A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113838



Internal ID21503216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8912373..8912373hg38UCSC Ensembl
chr2:9052503..9052503hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608297
Supporting Variants
SamplesNA19239
Known GenesMBOAT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113838
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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