A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246078



Internal ID22050688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65681687..65681687hg38UCSC Ensembl
chr8:66593922..66593922hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839688
Samples
Known GenesMTFR1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246078
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer