A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111390



Internal ID21475576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201563076..201563248hg38UCSC Ensembl
chr2:202427799..202427971hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567291
Supporting Variants
SamplesHG03486
Known GenesALS2CR11
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111390
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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