A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15705015



Internal ID21377291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229432442..229432521hg38UCSC Ensembl
chr1:229568189..229568268hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4389467
Supporting Variants
Samples
Known GenesACTA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15705015
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0201149


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