A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111389



Internal ID21468060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201508948..201510346hg38UCSC Ensembl
chr2:202373671..202375069hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5574026
Supporting Variants
SamplesHG03125
Known GenesALS2CR11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111389
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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