A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107464



Internal ID21483793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104947174..104947174hg38UCSC Ensembl
chr2:105563632..105563632hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619338
Supporting Variants
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107464
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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