A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114349



Internal ID21489274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45414955..45415018hg38UCSC Ensembl
chr2:45642094..45642157hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575720
Supporting Variants
SamplesNA18939
Known GenesSRBD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114349
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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