A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318789



Internal ID20851881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12792101..12941800hg38UCSC Ensembl
chr1:12852250..13001630hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38149700
hg19149381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n223
Supporting Variantsnssv18199360
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318789
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