A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107789



Internal ID21472550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101469070..101469070hg38UCSC Ensembl
chr2:102085532..102085532hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611361
Supporting Variants
SamplesHG03125
Known GenesRFX8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107789
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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