A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947338



Internal ID22722842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34119778..34121612hg38UCSC Ensembl
chr18:31699742..31701576hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381835
hg191835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387991
Samples
Known GenesNOL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947338
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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