A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943352



Internal ID22718800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57835914..57848505hg38UCSC Ensembl
chr17:55913275..55925866hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3812592
hg1912592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371611
Samples
Known GenesMRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943352
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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