A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17095730



Internal ID21507845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56125599..56125599hg38UCSC Ensembl
chr14:56592317..56592317hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5659942
Supporting Variants
SamplesNA20509
Known GenesPELI2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17095730
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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