A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571143



Internal ID21519517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241160897..241161120hg38UCSC Ensembl
chr2:242100312..242100535hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112489
SamplesHG03065
Known GenesPPP1R7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5571143
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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