A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17475551



Internal ID22533447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17583041..17585141hg38UCSC Ensembl
chr17:17486355..17488455hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882618
Supporting Variants
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17475551
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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