A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197696



Internal ID20764736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17334501..17339800hg38UCSC Ensembl
chr19:17445310..17450609hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519502
Supporting Variants
Samples
Known GenesANO8, GTPBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197696
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00685


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