A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489257



Internal ID22547176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197733417..197741543hg38UCSC Ensembl
chr2:198598141..198606267hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388127
hg198127
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832144
Supporting Variants
Samples
Known GenesBOLL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489257
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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