A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077632



Internal ID21502980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121784287..121784287hg38UCSC Ensembl
chr12:122222193..122222193hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655869
Supporting Variants
SamplesNA19239
Known GenesRHOF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077632
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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