A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056247



Internal ID21965480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166149901..166149901hg38UCSC Ensembl
chr1:166119138..166119138hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17517632
Samples
Known GenesFAM78B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056247
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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