A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643071



Internal ID21591376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65662665..65662665hg38UCSC Ensembl
chr8:66574900..66574900hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17151906
SamplesHG00731
Known GenesMTFR1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643071
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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