A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602536



Internal ID21551194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92071727..92072044hg38UCSC Ensembl
chr12:92465503..92465820hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092934
SamplesHG02818
Known GenesC12orf79
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5602536
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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