A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220000



Internal ID20787040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75518919..75519580hg38UCSC Ensembl
chr9:78133835..78134496hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6440776
Supporting Variants
Samples
Known GenesMIR548H3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220000
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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