A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17098776



Internal ID21402069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5230790..5230790hg38UCSC Ensembl
chr17:5134085..5134085hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648410
Supporting Variants
SamplesHG00096
Known GenesLOC100130950, SCIMP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17098776
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