A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575793



Internal ID21524225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93192114..93192205hg38UCSC Ensembl
chr1:93657671..93657762hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067335
SamplesHG01596
Known GenesCCDC18
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575793
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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