A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18049769



Internal ID20616809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7594701..7596700hg38UCSC Ensembl
chr19:7659587..7661586hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519477
Supporting Variants
Samples
Known GenesCAMSAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18049769
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04248


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