A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290094



Internal ID20499312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872770..50872770hg38UCSC Ensembl
chr12:51266553..51266553hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4753636
Supporting Variants
Samples
Known GenesTMPRSS12
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290094
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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