A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15706837



Internal ID21379113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152043721..152043809hg38UCSC Ensembl
chr2:152900235..152900323hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4389991
Supporting Variants
Samples
Known GenesCACNB4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15706837
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00862069


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