A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138870



Internal ID21443978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194421139..194421139hg38UCSC Ensembl
chr3:194141868..194141868hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618812
Supporting Variants
SamplesHG00732
Known GenesATP13A3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138870
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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