A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332458



Internal ID20865630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12790201..12935200hg38UCSC Ensembl
chr1:12850350..12995030hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38145000
hg19144681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n223
Supporting Variantsnssv18199352
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332458
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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