A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875691



Internal ID22650649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145452464..145452513hg38UCSC Ensembl
chr9:140778803..140778852hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355263
Samples
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875691
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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