A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942329



Internal ID22717765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31526323..31526430hg38UCSC Ensembl
chr18:29106286..29106393hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370447
Samples
Known GenesDSG2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942329
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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