A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122502



Internal ID21412844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10458682..10458682hg38UCSC Ensembl
chr5:10458794..10458794hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5638892
Supporting Variants
SamplesHG00513
Known GenesROPN1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122502
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