A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15706295



Internal ID21378571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46096715..46097728hg38UCSC Ensembl
chr18:43676681..43677694hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4392022
Supporting Variants
Samples
Known GenesATP5A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15706295
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0258621


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