A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101523



Internal ID21412329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57553219..57553219hg38UCSC Ensembl
chr18:55220451..55220451hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650375
Supporting Variants
SamplesHG00513
Known GenesFECH
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101523
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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