A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6364193



Internal ID21021746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:715104..1123703hg38UCSC Ensembl
chr4:708893..1117491hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38408600
hg19408599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211736
Samples
Known GenesCPLX1, DGKQ, FGFRL1, GAK, IDUA, LOC100129917, PCGF3, RNF212, SLC26A1, TMED11P, TMEM175
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6364193
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