A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944078



Internal ID22719536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35663801..35677588hg38UCSC Ensembl
chr18:33243765..33257552hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3813788
hg1913788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388861
Samples
Known GenesGALNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944078
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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