A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17147278



Internal ID21404480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11051520..11051520hg38UCSC Ensembl
chr6:11051753..11051753hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5627077
Supporting Variants
SamplesHG00512
Known GenesELOVL2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17147278
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