A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv49n223



Internal ID22803017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12752301..12954100hg38UCSC Ensembl
chr1:12812249..13013926hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38201800
hg19201678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6334674, nsv6319543
Samples
Known GenesC1orf158, HNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv49n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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