A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109772



Internal ID21425211
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 StatusS
Merged Variantsnsv5569343
Supporting Variants
SamplesHG00731
Known GenesSLC25A12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109772
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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