A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078581



Internal ID21448518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132780104..132780104hg38UCSC Ensembl
chr12:133356690..133356690hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656128
Supporting Variants
SamplesHG00864
Known GenesGOLGA3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078581
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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