A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214326



Internal ID20781366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94859193..94872582hg38UCSC Ensembl
chr4:95780344..95793733hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3813390
hg1913390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6379753
Supporting Variants
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214326
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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