A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945401



Internal ID22720878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17583114..17583248hg38UCSC Ensembl
chr17:17486428..17486562hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388123
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945401
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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