A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108163



Internal ID21460678
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 StatusS
Merged Variantsnsv5568591
Supporting Variants
SamplesHG02818
Known GenesTFCP2L1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108163
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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