A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109693



Internal ID21442339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160233hg38UCSC Ensembl
chr2:166014693..166016743hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581829
Supporting Variants
SamplesHG00732
Known GenesSCN3A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109693
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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