A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320853



Internal ID20853954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211704168..211791514hg38UCSC Ensembl
chr1:211877510..211964856hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3887347
hg1987347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199932
Samples
Known GenesLPGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320853
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