A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17085364



Internal ID21462722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45317113..45317113hg38UCSC Ensembl
chr12:45710896..45710896hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659266
Supporting Variants
SamplesHG03009
Known GenesANO6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17085364
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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