A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481232



Internal ID22539136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177685063..177711223hg38UCSC Ensembl
chr2:178549791..178575951hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3826161
hg1926161
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831961
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481232
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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