A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399352



Internal ID22457222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53672928..53819237hg38UCSC Ensembl
chr19:54176182..54322491hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38146310
hg19146310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931914
Supporting Variants
Samples
Known GenesMIR1283-1, MIR1283-2, MIR371A, MIR371B, MIR372, MIR373, MIR498, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, NLRP12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399352
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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