A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078024



Internal ID21441743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129242825..129242825hg38UCSC Ensembl
chr12:129727370..129727370hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646772
Supporting Variants
SamplesHG00732
Known GenesTMEM132D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078024
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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