A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5589949



Internal ID21538517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:20958866..20959113hg38UCSC Ensembl
chr18:18538827..18539074hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100371
SamplesHG02011
Known GenesROCK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5589949
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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