A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970455



Internal ID22745390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18283511..18283511hg38UCSC Ensembl
chr11:18305058..18305058hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362230
Samples
Known GenesHPS5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970455
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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