A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951094



Internal ID22726476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53598207..53598207hg38UCSC Ensembl
chr1:54063880..54063880hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378431
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951094
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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