A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111377



Internal ID21473939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200773344..200773344hg38UCSC Ensembl
chr2:201638067..201638067hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38971
hg19971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613616
Supporting Variants
SamplesHG03371
Known GenesAOX2P
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111377
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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