A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204425



Internal ID20771465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75495601..75497100hg38UCSC Ensembl
chr1:75961286..75962785hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328537
Supporting Variants
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204425
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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