A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17099505



Internal ID21444938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68781069..68781122hg38UCSC Ensembl
chr12:69174849..69174902hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5588950
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17099505
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