A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200727



Internal ID20767767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247203201..247250400hg38UCSC Ensembl
chr1:247366503..247413702hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3847200
hg1947200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325902
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200727
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00076


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer