A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930308



Internal ID22705573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34115091..34115167hg38UCSC Ensembl
chr18:31695055..31695131hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378388
Samples
Known GenesNOL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930308
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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