A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6036112



Internal ID21945455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29662662..29664174hg38UCSC Ensembl
chr12:29815595..29817107hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381513
hg191513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17616104
Samples
Known GenesTMTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6036112
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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