A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219132



Internal ID20786172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48991667..49108897hg38UCSC Ensembl
chr7:49031263..49148493hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38117231
hg19117231
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6618624
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219132
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