A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409387



Internal ID22467257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45866461..45872051hg38UCSC Ensembl
chr21:47286375..47291965hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385591
hg195591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961600
Supporting Variants
Samples
Known GenesPCBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409387
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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