A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331482



Internal ID20864645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121429201..121604100hg38UCSC Ensembl
chr1:121171061..121345898hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38174900
hg19174838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv322n223
Supporting Variantsnssv18199307
Samples
Known GenesEMBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331482
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