A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114280



Internal ID21483323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43858056..43858056hg38UCSC Ensembl
chr2:44085195..44085195hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619297
Supporting Variants
SamplesHG03732
Known GenesABCG8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114280
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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