A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17093179



Internal ID21478054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872742..50872835hg38UCSC Ensembl
chr12:51266525..51266618hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586519
Supporting Variants
SamplesHG03486
Known GenesTMPRSS12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17093179
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