A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384439



Internal ID22442309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35687182..35689167hg38UCSC Ensembl
chr18:33267146..33269131hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381986
hg191986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936969
Supporting Variants
Samples
Known GenesGALNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384439
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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