A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399108



Internal ID22456978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38714152..38714538hg38UCSC Ensembl
chr19:39204792..39205178hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937248
Supporting Variants
Samples
Known GenesACTN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399108
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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