A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189035



Internal ID20756075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74425701..74426900hg38UCSC Ensembl
chr13:74999838..75001037hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475677
Supporting Variants
Samples
Known GenesLINC00381
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189035
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00054


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