A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6093812



Internal ID22003045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40448629..40448629hg38UCSC Ensembl
chr12:40842431..40842431hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17615952
Samples
Known GenesMUC19
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6093812
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