A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077131



Internal ID21477888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110058777..110060345hg38UCSC Ensembl
chr12:110496582..110498150hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381569
hg191569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5596498
Supporting Variants
SamplesHG03486
Known GenesC12orf76
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077131
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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