A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17141792



Internal ID21448277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11117339..11117339hg38UCSC Ensembl
chr6:11117572..11117572hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5627536
Supporting Variants
SamplesHG00864
Known GenesSMIM13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17141792
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