A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388123



Internal ID22445993
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 StatusS
Merged Variantsnsv5945401
Supporting Variants
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388123
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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