A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594159



Internal ID21542754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43260613..43260948hg38UCSC Ensembl
chr12:43654416..43654751hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097768
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594159
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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