A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400484



Internal ID22458354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19401460..19402304hg38UCSC Ensembl
chr19:19512269..19513113hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5939385
Supporting Variants
Samples
Known GenesGATAD2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400484
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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