A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138531



Internal ID337715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13212400..13308384hg38UCSC Ensembl
chr1:13326379..13634776hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3895985
hg19308398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895143
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF22, PRAMEF23, PRAMEF3, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138531
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