A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18072507



Internal ID20639547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42737544..42742520hg38UCSC Ensembl
chr21:44157654..44162630hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384977
hg194977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6540212
Supporting Variants
Samples
Known GenesPDE9A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18072507
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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