A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570212



Internal ID21518576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81389770..81390744hg38UCSC Ensembl
chr5:80685589..80686563hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17156997
SamplesHG00513
Known GenesACOT12, RNU5D-1, RNU5E-1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570212
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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