A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087578



Internal ID21404355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32784980..32784980hg38UCSC Ensembl
chr14:33254186..33254186hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648822
Supporting Variants
SamplesHG00512
Known GenesAKAP6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17087578
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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