A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17616792



Internal ID21808839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29539309..29539309hg38UCSC Ensembl
chr12:29692242..29692242hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6086242
Supporting Variants
Samples
Known GenesTMTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17616792
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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