A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5601312



Internal ID21549958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40768342..40768420hg38UCSC Ensembl
chr13:41342478..41342556hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092810
SamplesNA19239
Known GenesMRPS31
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5601312
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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