A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5846549



Internal ID22621484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:18025924..18028152hg38UCSC Ensembl
chr7:18065547..18067775hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg382229
hg192229
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17504122
Samples
Known GenesPRPS1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5846549
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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