A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946827



Internal ID22722324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1946443..1946572hg38UCSC Ensembl
chr17:1849737..1849866hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374027
Samples
Known GenesRTN4RL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946827
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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