A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398403



Internal ID22456273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2126150..2126242hg38UCSC Ensembl
chr19:2126149..2126241hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934396
Supporting Variants
Samples
Known GenesAP3D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398403
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010


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