A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13705486



Internal ID21227284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40440328..40440550hg38UCSC Ensembl
chr21:41812255..41812477hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2803283
Supporting Variants
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13705486
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.953125


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