A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481979



Internal ID22539884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201508907..201510341hg38UCSC Ensembl
chr2:202373630..202375064hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381435
hg191435
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832366
Supporting Variants
Samples
Known GenesALS2CR11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481979
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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