A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202315



Internal ID20769355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197497501..197531500hg38UCSC Ensembl
chr1:197466631..197500630hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3834000
hg1934000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315688
Supporting Variants
Samples
Known GenesDENND1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202315
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00044


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