A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078102



Internal ID21464593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131367433..131367433hg38UCSC Ensembl
chr12:131851978..131851978hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382992
hg192992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656525
Supporting Variants
SamplesHG03065
Known GenesLOC338797
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078102
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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