A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079391



Internal ID21402890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29726411..29726411hg38UCSC Ensembl
chr12:29879344..29879344hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650333
Supporting Variants
SamplesHG00171
Known GenesTMTC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079391
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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