A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5588498



Internal ID21537061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116841820..116841895hg38UCSC Ensembl
chr12:117279625..117279700hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077252
SamplesHG00731
Known GenesRNFT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5588498
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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