A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17073847



Internal ID21449689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18350483..18350589hg38UCSC Ensembl
chr11:18372030..18372136hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5602495
Supporting Variants
SamplesHG01114
Known GenesGTF2H1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17073847
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer