A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17134308



Internal ID21416468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123517899..123518213hg38UCSC Ensembl
chr3:123236746..123237060hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567432
Supporting Variants
SamplesHG00731
Known GenesPTPLB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17134308
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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