A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18102901



Internal ID20669941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57521042..57523711hg38UCSC Ensembl
chr3:57506769..57509438hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382670
hg192670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6360843
Supporting Variants
Samples
Known GenesDNAH12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18102901
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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