A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200611



Internal ID20767651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241517001..241519500hg38UCSC Ensembl
chr1:241680301..241682800hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325321
Supporting Variants
Samples
Known GenesFH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200611
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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