A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948629



Internal ID21368698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23218468..23218540hg38UCSC Ensembl
chr18:20798432..20798504hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15175810
SamplesHG002
Known GenesCABLES1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948629
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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