A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568591



Internal ID21516940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121225794..121226039hg38UCSC Ensembl
chr2:121983370..121983615hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108163
SamplesHG02818
Known GenesTFCP2L1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568591
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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