A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531209



Internal ID20904570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:330506..385819hg38UCSC Ensembl
chr19:330506..385819hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3855314
hg1955314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197318
Samples
Known GenesMIER2, THEG
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531209
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