A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607675



Internal ID21555980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362769..193362769hg38UCSC Ensembl
chr3:193080558..193080558hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17126766
SamplesHG00731
Known GenesATP13A5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607675
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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