A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123243



Internal ID21470379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194421153..194421153hg38UCSC Ensembl
chr3:194141882..194141882hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620825
Supporting Variants
SamplesHG03125
Known GenesATP13A3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123243
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer