A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078413



Internal ID21487866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129339592..129339592hg38UCSC Ensembl
chr12:129824137..129824137hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381061
hg191061
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5663174
Supporting Variants
SamplesNA18534
Known GenesTMEM132D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078413
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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