A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569343



Internal ID21517699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171808201..171808310hg38UCSC Ensembl
chr2:172664711..172664820hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109772
SamplesHG00731
Known GenesSLC25A12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569343
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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