A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6098947



Internal ID22008180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124840007..124840007hg38UCSC Ensembl
chr12:125324553..125324553hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604776
Samples
Known GenesSCARB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6098947
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