A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107788



Internal ID21494335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101468991..101469040hg38UCSC Ensembl
chr2:102085453..102085502hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581589
Supporting Variants
SamplesNA19238
Known GenesRFX8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107788
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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