A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928634



Internal ID22703877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35703642..35709621hg38UCSC Ensembl
chr18:33283606..33289585hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg385980
hg195980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377292
Samples
Known GenesGALNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928634
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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