A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122529



Internal ID21412834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113015584..113015584hg38UCSC Ensembl
chr3:112734431..112734431hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613822
Supporting Variants
SamplesHG00513
Known GenesC3orf17
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122529
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