A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109683



Internal ID21452847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164840187..164840573hg38UCSC Ensembl
chr2:165696697..165697083hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5576580
Supporting Variants
SamplesHG02011
Known GenesCOBLL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109683
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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