A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143085



Internal ID342286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131629728..131763728hg38UCSC Ensembl
chr12:132114273..132248273hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38134001
hg19134001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685573
Samples
Known GenesSFSWAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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