A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570865



Internal ID21519236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65662038..65662109hg38UCSC Ensembl
chr8:66574273..66574344hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17145932
SamplesHG00731
Known GenesMTFR1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570865
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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