A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199349



Internal ID20766389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12789701..12922100hg38UCSC Ensembl
chr1:12849850..12981920hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38132400
hg19132071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331674
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199349
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00624


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