A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17121300



Internal ID21420011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193514436..193514674hg38UCSC Ensembl
chr3:193232225..193232463hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564810
Supporting Variants
SamplesHG00731
Known GenesATP13A4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17121300
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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