A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943359



Internal ID22718807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1949385..1952632hg38UCSC Ensembl
chr17:1852679..1855926hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379354
Samples
Known GenesRTN4RL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943359
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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