A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886992



Internal ID22661982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53533695..53536975hg38UCSC Ensembl
chr1:53999368..54002648hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383281
hg193281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374550
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886992
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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