A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482053



Internal ID22539958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210212828..210215888hg38UCSC Ensembl
chr2:211077552..211080612hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383061
hg193061
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832165
Supporting Variants
Samples
Known GenesACADL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482053
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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