A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931914



Internal ID22707204
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 StatusM
Merged Variants
Supporting Variantsnssv17399352
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)nsv5931914
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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